Canonical Allele Identifier: CA229437

Gene: PAH

Linked Data

• ClinVar Variation Id: 102595
• ClinVar RCV Id: RCV000088834 ; RCV000632880 ; RCV003407485
• dbSNP Id: rs76542238
• ExAC: 12:103232972 G / T
• gnomAD v2: 12-103232972-G-T
• gnomAD v3: 12-102839194-G-T
• gnomAD v4: 12-102839194-G-T
• MyVariant Identifiers: chr12:g.103232972G>T (hg19) ; chr12:g.102839194G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102839194G>T , CM000674.2:g.102839194G>T	GRCh38
NC_000012.11:g.103232972G>T , CM000674.1:g.103232972G>T	GRCh37
NC_000012.10:g.101757102G>T	NCBI36
NG_008690.1:g.83409C>A
NG_008690.2:g.124217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1340C>A MANE Select	ENSP00000448059.1:p.Ala447Asp
ENST00000307000.7:c.1325C>A	ENSP00000303500.2:p.Ala442Asp
ENST00000551114.2:n.1002C>A
ENST00000553106.5:c.1340C>A	ENSP00000448059.1:p.Ala447Asp
ENST00000635528.1:n.855C>A
NM_000277.1:c.1340C>A	NP_000268.1:p.Ala447Asp
XM_011538422.1:c.1283C>A	XP_011536724.1:p.Ala428Asp
NM_000277.2:c.1340C>A	NP_000268.1:p.Ala447Asp
NM_001354304.1:c.1340C>A	NP_001341233.1:p.Ala447Asp
NM_000277.3:c.1340C>A MANE Select	NP_000268.1:p.Ala447Asp
NM_001354304.2:c.1340C>A	NP_001341233.1:p.Ala447Asp