Canonical Allele Identifier: CA229492

Gene: PAH

Linked Data

• ClinVar Variation Id: 102634
• ClinVar RCV Id: RCV000088877 ; RCV001389298
• dbSNP Id: rs62507347
• MyVariant Identifiers: chr12:g.103288638T>G (hg19) ; chr12:g.102894860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894860T>G , CM000674.2:g.102894860T>G	GRCh38
NC_000012.11:g.103288638T>G , CM000674.1:g.103288638T>G	GRCh37
NC_000012.10:g.101812768T>G	NCBI36
NG_008690.1:g.27743A>C
NG_008690.2:g.68551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.227A>C MANE Select	ENSP00000448059.1:p.Glu76Ala
ENST00000307000.7:c.212A>C	ENSP00000303500.2:p.Glu71Ala
ENST00000546844.1:c.227A>C	ENSP00000446658.1:p.Glu76Ala
ENST00000548677.2:n.314A>C
ENST00000548928.1:n.149A>C
ENST00000549111.5:n.323A>C
ENST00000550978.6:c.211A>C
ENST00000551337.5:c.227A>C	ENSP00000447620.1:p.Glu76Ala
ENST00000551988.5:n.316A>C
ENST00000553106.5:c.227A>C	ENSP00000448059.1:p.Glu76Ala
NM_000277.1:c.227A>C	NP_000268.1:p.Glu76Ala
XM_011538422.1:c.227A>C	XP_011536724.1:p.Glu76Ala
NM_000277.2:c.227A>C	NP_000268.1:p.Glu76Ala
NM_001354304.1:c.227A>C	NP_001341233.1:p.Glu76Ala
XM_017019370.2:c.227A>C	XP_016874859.1:p.Glu76Ala
NM_000277.3:c.227A>C MANE Select	NP_000268.1:p.Glu76Ala
NM_001354304.2:c.227A>C	NP_001341233.1:p.Glu76Ala