Canonical Allele Identifier: CA251522
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs5030861
ExAC: 12:103234177 C / T
gnomAD v2: 12-103234177-C-T
gnomAD v3: 12-102840399-C-T
gnomAD v4: 12-102840399-C-T
MyVariant Identifiers: chr12:g.103234177C>T (hg19) chr12:g.102840399C>T (hg38)
PubMed: PMID:3008810 PMID:3615198 PMID:8406445 PMID:9399896 PMID:11043162 PMID:11328945 PMID:11581453 PMID:14760268 PMID:15171997 PMID:15665165 PMID:17410469 PMID:17443661 PMID:17935162 PMID:18566668 PMID:20188615 PMID:20301677 PMID:22526846 PMID:22965559 PMID:23514811 PMID:23792259 PMID:23891399 PMID:24190797 PMID:24368688 PMID:25596310
ERepo: CA251522/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840399C>T , CM000674.2:g.102840399C>T GRCh38
NC_000012.11:g.103234177C>T , CM000674.1:g.103234177C>T GRCh37
NC_000012.10:g.101758307C>T NCBI36
NG_008690.1:g.82204G>A
NG_008690.2:g.123012G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+1G>A MANE Select ENSP00000448059.1:n.1315+1G>A
ENST00000307000.7:c.1300+1G>A ENSP00000303500.2:n.1300+1G>A
ENST00000551114.2:n.977+1G>A
ENST00000553106.5:c.1315+1G>A ENSP00000448059.1:n.1315+1G>A
ENST00000635477.1:c.419+1G>A
ENST00000635528.1:n.830+1G>A
NM_000277.1:c.1315+1G>A NP_000268.1:n.1315+1G>A
XM_011538422.1:c.1258+1G>A XP_011536724.1:n.1258+1G>A
NM_000277.2:c.1315+1G>A NP_000268.1:n.1315+1G>A
NM_001354304.1:c.1315+1G>A NP_001341233.1:n.1315+1G>A
NM_000277.3:c.1315+1G>A MANE Select NP_000268.1:n.1315+1G>A
NM_001354304.2:c.1315+1G>A NP_001341233.1:n.1315+1G>A
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