Canonical Allele Identifier: CA229785

Gene: PAH

Linked Data

• ClinVar Variation Id: 598
• ClinVar RCV Id: RCV000000629 ; RCV000089111
• dbSNP Id: rs62514953
• ExAC: 12:103246617 G / A
• gnomAD v2: 12-103246617-G-A
• gnomAD v3: 12-102852839-G-A
• gnomAD v4: 12-102852839-G-A
• MyVariant Identifiers: chr12:g.103246617G>A (hg19) ; chr12:g.102852839G>A (hg38)
• PubMed: PMID:1671881
• ERepo: CA229785/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852839G>A , CM000674.2:g.102852839G>A	GRCh38
NC_000012.11:g.103246617G>A , CM000674.1:g.103246617G>A	GRCh37
NC_000012.10:g.101770747G>A	NCBI36
NG_008690.1:g.69764C>T
NG_008690.2:g.110572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.818C>T MANE Select	ENSP00000448059.1:p.Ser273Phe
ENST00000307000.7:c.803C>T	ENSP00000303500.2:p.Ser268Phe
ENST00000549247.6:n.577C>T
ENST00000553106.5:c.818C>T	ENSP00000448059.1:p.Ser273Phe
NM_000277.1:c.818C>T	NP_000268.1:p.Ser273Phe
XM_011538422.1:c.818C>T	XP_011536724.1:p.Ser273Phe
NM_000277.2:c.818C>T	NP_000268.1:p.Ser273Phe
NM_001354304.1:c.818C>T	NP_001341233.1:p.Ser273Phe
NM_000277.3:c.818C>T MANE Select	NP_000268.1:p.Ser273Phe
NM_001354304.2:c.818C>T	NP_001341233.1:p.Ser273Phe