Canonical Allele Identifier: CA386294523

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103245536T>G (hg19) ; chr12:g.102851758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851758T>G , CM000674.2:g.102851758T>G	GRCh38
NC_000012.11:g.103245536T>G , CM000674.1:g.103245536T>G	GRCh37
NC_000012.10:g.101769666T>G	NCBI36
NG_008690.1:g.70845A>C
NG_008690.2:g.111653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-2A>C MANE Select	ENSP00000448059.1:n.843-2A>C
ENST00000307000.7:c.828-2A>C	ENSP00000303500.2:n.828-2A>C
ENST00000549247.6:n.602-2A>C
ENST00000551114.2:n.503A>C
ENST00000553106.5:c.843-2A>C	ENSP00000448059.1:n.843-2A>C
ENST00000635477.1:c.4-2A>C
NM_000277.1:c.843-2A>C	NP_000268.1:n.843-2A>C
XM_011538422.1:c.843-2A>C	XP_011536724.1:n.843-2A>C
NM_000277.2:c.843-2A>C	NP_000268.1:n.843-2A>C
NM_001354304.1:c.843-2A>C	NP_001341233.1:n.843-2A>C
NM_000277.3:c.843-2A>C MANE Select	NP_000268.1:n.843-2A>C
NM_001354304.2:c.843-2A>C	NP_001341233.1:n.843-2A>C