Canonical Allele Identifier: CA229736

Gene: PAH

Linked Data

• ClinVar Variation Id: 102818
• ClinVar RCV Id: RCV000089073 ; RCV000169396
• dbSNP Id: rs199475579
• gnomAD v4: 12-102852917-C-A
• MyVariant Identifiers: chr12:g.103246695C>A (hg19) ; chr12:g.102852917C>A (hg38)
• PubMed: PMID:1639423 ; PMID:7844887 ; PMID:8682503 ; PMID:9575658 ; PMID:9949232 ; PMID:10693064 ; PMID:16256386 ; PMID:17924342 ; PMID:19147918 ; PMID:21307867 ; PMID:21811977 ; PMID:23932990 ; PMID:24661517

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852917C>A , CM000674.2:g.102852917C>A	GRCh38
NC_000012.11:g.103246695C>A , CM000674.1:g.103246695C>A	GRCh37
NC_000012.10:g.101770825C>A	NCBI36
NG_008690.1:g.69686G>T
NG_008690.2:g.110494G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.740G>T MANE Select	ENSP00000448059.1:p.Gly247Val
ENST00000307000.7:c.725G>T	ENSP00000303500.2:p.Gly242Val
ENST00000549247.6:n.499G>T
ENST00000553106.5:c.740G>T	ENSP00000448059.1:p.Gly247Val
NM_000277.1:c.740G>T	NP_000268.1:p.Gly247Val
XM_011538422.1:c.740G>T	XP_011536724.1:p.Gly247Val
NM_000277.2:c.740G>T	NP_000268.1:p.Gly247Val
NM_001354304.1:c.740G>T	NP_001341233.1:p.Gly247Val
NM_000277.3:c.740G>T MANE Select	NP_000268.1:p.Gly247Val
NM_001354304.2:c.740G>T	NP_001341233.1:p.Gly247Val