Canonical Allele Identifier: CA286498

Gene: PAH

Linked Data

• ClinVar Variation Id: 102549
• ClinVar RCV Id: RCV000088783 ; RCV000410586
• dbSNP Id: rs62508736
• ExAC: 12:103237439 G / C
• gnomAD v2: 12-103237439-G-C
• gnomAD v3: 12-102843661-G-C
• gnomAD v4: 12-102843661-G-C
• MyVariant Identifiers: chr12:g.103237439G>C (hg19) ; chr12:g.102843661G>C (hg38)
• PubMed: PMID:16256386

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843661G>C , CM000674.2:g.102843661G>C	GRCh38
NC_000012.11:g.103237439G>C , CM000674.1:g.103237439G>C	GRCh37
NC_000012.10:g.101761569G>C	NCBI36
NG_008690.1:g.78942C>G
NG_008690.2:g.119750C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1184C>G MANE Select	ENSP00000448059.1:p.Ala395Gly
ENST00000307000.7:c.1169C>G	ENSP00000303500.2:p.Ala390Gly
ENST00000549247.6:n.943C>G
ENST00000551114.2:n.846C>G
ENST00000553106.5:c.1184C>G	ENSP00000448059.1:p.Ala395Gly
ENST00000635477.1:c.288C>G
ENST00000635528.1:n.699C>G
NM_000277.1:c.1184C>G	NP_000268.1:p.Ala395Gly
XM_011538422.1:c.1127C>G	XP_011536724.1:p.Ala376Gly
NM_000277.2:c.1184C>G	NP_000268.1:p.Ala395Gly
NM_001354304.1:c.1184C>G	NP_001341233.1:p.Ala395Gly
NM_000277.3:c.1184C>G MANE Select	NP_000268.1:p.Ala395Gly
NM_001354304.2:c.1184C>G	NP_001341233.1:p.Ala395Gly