Canonical Allele Identifier: CA229505

Gene: PAH

Linked Data

• ClinVar Variation Id: 102644
• ClinVar RCV Id: RCV000088889 ; RCV000673537
• dbSNP Id: rs62508677
• gnomAD v3: 12-102894806-A-C
• gnomAD v4: 12-102894806-A-C
• MyVariant Identifiers: chr12:g.103288584A>C (hg19) ; chr12:g.102894806A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894806A>C , CM000674.2:g.102894806A>C	GRCh38
NC_000012.11:g.103288584A>C , CM000674.1:g.103288584A>C	GRCh37
NC_000012.10:g.101812714A>C	NCBI36
NG_008690.1:g.27797T>G
NG_008690.2:g.68605T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.281T>G MANE Select	ENSP00000448059.1:p.Ile94Ser
ENST00000307000.7:c.266T>G	ENSP00000303500.2:p.Ile89Ser
ENST00000546844.1:c.281T>G	ENSP00000446658.1:p.Ile94Ser
ENST00000548677.2:n.368T>G
ENST00000548928.1:n.203T>G
ENST00000549111.5:n.377T>G
ENST00000550978.6:c.265T>G
ENST00000551337.5:c.281T>G	ENSP00000447620.1:p.Ile94Ser
ENST00000551988.5:n.370T>G
ENST00000553106.5:c.281T>G	ENSP00000448059.1:p.Ile94Ser
NM_000277.1:c.281T>G	NP_000268.1:p.Ile94Ser
XM_011538422.1:c.281T>G	XP_011536724.1:p.Ile94Ser
NM_000277.2:c.281T>G	NP_000268.1:p.Ile94Ser
NM_001354304.1:c.281T>G	NP_001341233.1:p.Ile94Ser
XM_017019370.2:c.281T>G	XP_016874859.1:p.Ile94Ser
NM_000277.3:c.281T>G MANE Select	NP_000268.1:p.Ile94Ser
NM_001354304.2:c.281T>G	NP_001341233.1:p.Ile94Ser