Canonical Allele Identifier: CA386493409

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103238131A>G (hg19) ; chr12:g.102844353A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844353A>G , CM000674.2:g.102844353A>G	GRCh38
NC_000012.11:g.103238131A>G , CM000674.1:g.103238131A>G	GRCh37
NC_000012.10:g.101762261A>G	NCBI36
NG_008690.1:g.78250T>C
NG_008690.2:g.119058T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1048T>C MANE Select	ENSP00000448059.1:p.Ser350Pro
ENST00000307000.7:c.1033T>C	ENSP00000303500.2:p.Ser345Pro
ENST00000549247.6:n.807T>C
ENST00000551114.2:n.710T>C
ENST00000553106.5:c.1048T>C	ENSP00000448059.1:p.Ser350Pro
ENST00000635477.1:c.152T>C
ENST00000635528.1:n.563T>C
NM_000277.1:c.1048T>C	NP_000268.1:p.Ser350Pro
XM_011538422.1:c.991T>C	XP_011536724.1:p.Ser331Pro
NM_000277.2:c.1048T>C	NP_000268.1:p.Ser350Pro
NM_001354304.1:c.1048T>C	NP_001341233.1:p.Ser350Pro
NM_000277.3:c.1048T>C MANE Select	NP_000268.1:p.Ser350Pro
NM_001354304.2:c.1048T>C	NP_001341233.1:p.Ser350Pro