Canonical Allele Identifier: CA386302062

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103271247T>G (hg19) ; chr12:g.102877469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877469T>G , CM000674.2:g.102877469T>G	GRCh38
NC_000012.11:g.103271247T>G , CM000674.1:g.103271247T>G	GRCh37
NC_000012.10:g.101795377T>G	NCBI36
NG_008690.1:g.45134A>C
NG_008690.2:g.85942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.434A>C MANE Select	ENSP00000448059.1:p.Asp145Ala
ENST00000307000.7:c.419A>C	ENSP00000303500.2:p.Asp140Ala
ENST00000549111.5:n.530A>C
ENST00000550978.6:c.418A>C
ENST00000551988.5:n.523A>C
ENST00000553106.5:c.434A>C	ENSP00000448059.1:p.Asp145Ala
NM_000277.1:c.434A>C	NP_000268.1:p.Asp145Ala
XM_011538422.1:c.434A>C	XP_011536724.1:p.Asp145Ala
NM_000277.2:c.434A>C	NP_000268.1:p.Asp145Ala
NM_001354304.1:c.434A>C	NP_001341233.1:p.Asp145Ala
XM_017019370.2:c.434A>C	XP_016874859.1:p.Asp145Ala
NM_000277.3:c.434A>C MANE Select	NP_000268.1:p.Asp145Ala
NM_001354304.2:c.434A>C	NP_001341233.1:p.Asp145Ala