Canonical Allele Identifier: CA229414
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 592
ClinVar RCV Id: RCV000000623 RCV000088813
dbSNP Id: rs79931499
ExAC: 12:103234255 C / G
gnomAD v2: 12-103234255-C-G
gnomAD v4: 12-102840477-C-G
MyVariant Identifiers: chr12:g.103234255C>G (hg19) chr12:g.102840477C>G (hg38)
ERepo: CA229414/MONDO:0009861/006
PubMed: PMID:1998345 PMID:15319459 PMID:21307867 PMID:26322415
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840477C>G , CM000674.2:g.102840477C>G GRCh38
NC_000012.11:g.103234255C>G , CM000674.1:g.103234255C>G GRCh37
NC_000012.10:g.101758385C>G NCBI36
NG_008690.1:g.82126G>C
NG_008690.2:g.122934G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1238G>C MANE Select ENSP00000448059.1:p.Arg413Pro
ENST00000307000.7:c.1223G>C ENSP00000303500.2:p.Arg408Pro
ENST00000551114.2:n.900G>C
ENST00000553106.5:c.1238G>C ENSP00000448059.1:p.Arg413Pro
ENST00000635477.1:c.342G>C
ENST00000635528.1:n.753G>C
NM_000277.1:c.1238G>C NP_000268.1:p.Arg413Pro
XM_011538422.1:c.1181G>C XP_011536724.1:p.Arg394Pro
NM_000277.2:c.1238G>C NP_000268.1:p.Arg413Pro
NM_001354304.1:c.1238G>C NP_001341233.1:p.Arg413Pro
NM_000277.3:c.1238G>C MANE Select NP_000268.1:p.Arg413Pro
NM_001354304.2:c.1238G>C NP_001341233.1:p.Arg413Pro
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