Canonical Allele Identifier: CA229374

Gene: PAH

Linked Data

• ClinVar Variation Id: 102548
• ClinVar RCV Id: RCV000088782 ; RCV002509213
• dbSNP Id: rs62508736
• MyVariant Identifiers: chr12:g.103237439G>T (hg19) ; chr12:g.102843661G>T (hg38)
• ERepo: CA229374/MONDO:0009861/006

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1184C>A MANE Select	ENSP00000448059.1:p.Ala395Asp
ENST00000307000.7:c.1169C>A	ENSP00000303500.2:p.Ala390Asp
ENST00000549247.6:n.943C>A
ENST00000551114.2:n.846C>A
ENST00000553106.5:c.1184C>A	ENSP00000448059.1:p.Ala395Asp
ENST00000635477.1:c.288C>A
ENST00000635528.1:n.699C>A
NM_000277.1:c.1184C>A	NP_000268.1:p.Ala395Asp
XM_011538422.1:c.1127C>A	XP_011536724.1:p.Ala376Asp
NM_000277.2:c.1184C>A	NP_000268.1:p.Ala395Asp
NM_001354304.1:c.1184C>A	NP_001341233.1:p.Ala395Asp
NM_000277.3:c.1184C>A MANE Select	NP_000268.1:p.Ala395Asp
NM_001354304.2:c.1184C>A	NP_001341233.1:p.Ala395Asp