Canonical Allele Identifier: CA386493246

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103237491T>G (hg19) ; chr12:g.102843713T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843713T>G , CM000674.2:g.102843713T>G	GRCh38
NC_000012.11:g.103237491T>G , CM000674.1:g.103237491T>G	GRCh37
NC_000012.10:g.101761621T>G	NCBI36
NG_008690.1:g.78890A>C
NG_008690.2:g.119698A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1132A>C MANE Select	ENSP00000448059.1:p.Thr378Pro
ENST00000307000.7:c.1117A>C	ENSP00000303500.2:p.Thr373Pro
ENST00000549247.6:n.891A>C
ENST00000551114.2:n.794A>C
ENST00000553106.5:c.1132A>C	ENSP00000448059.1:p.Thr378Pro
ENST00000635477.1:c.236A>C
ENST00000635528.1:n.647A>C
NM_000277.1:c.1132A>C	NP_000268.1:p.Thr378Pro
XM_011538422.1:c.1075A>C	XP_011536724.1:p.Thr359Pro
NM_000277.2:c.1132A>C	NP_000268.1:p.Thr378Pro
NM_001354304.1:c.1132A>C	NP_001341233.1:p.Thr378Pro
NM_000277.3:c.1132A>C MANE Select	NP_000268.1:p.Thr378Pro
NM_001354304.2:c.1132A>C	NP_001341233.1:p.Thr378Pro