Canonical Allele Identifier: CA220589
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 589
ClinVar RCV Id: RCV000000620 RCV000078534 RCV001265833
dbSNP Id: rs5030851
ExAC: 12:103246593 G / A
gnomAD v2: 12-103246593-G-A
gnomAD v3: 12-102852815-G-A
gnomAD v4: 12-102852815-G-A
MyVariant Identifiers: chr12:g.103246593G>A (hg19) chr12:g.102852815G>A (hg38)
ERepo: CA220589/MONDO:0009861/006
PubMed: PMID:1672294 PMID:1769645 PMID:2044609 PMID:7807961 PMID:8889590 PMID:9399896 PMID:9781015 PMID:10471838 PMID:11696894 PMID:12501224 PMID:12905706 PMID:14654665 PMID:15503242 PMID:17935162 PMID:18294361 PMID:18299955 PMID:19062537 PMID:19147918 PMID:19394257 PMID:20187763 PMID:20301677 PMID:20920871 PMID:22513348 PMID:22526846 PMID:22763404 PMID:23357515
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852815G>A , CM000674.2:g.102852815G>A GRCh38
NC_000012.11:g.103246593G>A , CM000674.1:g.103246593G>A GRCh37
NC_000012.10:g.101770723G>A NCBI36
NG_008690.1:g.69788C>T
NG_008690.2:g.110596C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.842C>T MANE Select ENSP00000448059.1:p.Pro281Leu
ENST00000307000.7:c.827C>T ENSP00000303500.2:p.Pro276Leu
ENST00000549247.6:n.601C>T
ENST00000553106.5:c.842C>T ENSP00000448059.1:p.Pro281Leu
ENST00000635477.1:c.3C>T
NM_000277.1:c.842C>T NP_000268.1:p.Pro281Leu
XM_011538422.1:c.842C>T XP_011536724.1:p.Pro281Leu
NM_000277.2:c.842C>T NP_000268.1:p.Pro281Leu
NM_001354304.1:c.842C>T NP_001341233.1:p.Pro281Leu
NM_000277.3:c.842C>T MANE Select NP_000268.1:p.Pro281Leu
NM_001354304.2:c.842C>T NP_001341233.1:p.Pro281Leu
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