Canonical Allele Identifier: CA386493448

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103238163G>T (hg19) ; chr12:g.102844385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844385G>T , CM000674.2:g.102844385G>T	GRCh38
NC_000012.11:g.103238163G>T , CM000674.1:g.103238163G>T	GRCh37
NC_000012.10:g.101762293G>T	NCBI36
NG_008690.1:g.78218C>A
NG_008690.2:g.119026C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1016C>A MANE Select	ENSP00000448059.1:p.Ser339Tyr
ENST00000307000.7:c.1001C>A	ENSP00000303500.2:p.Ser334Tyr
ENST00000549247.6:n.775C>A
ENST00000551114.2:n.678C>A
ENST00000553106.5:c.1016C>A	ENSP00000448059.1:p.Ser339Tyr
ENST00000635477.1:c.120C>A
ENST00000635528.1:n.531C>A
NM_000277.1:c.1016C>A	NP_000268.1:p.Ser339Tyr
XM_011538422.1:c.959C>A	XP_011536724.1:p.Ser320Tyr
NM_000277.2:c.1016C>A	NP_000268.1:p.Ser339Tyr
NM_001354304.1:c.1016C>A	NP_001341233.1:p.Ser339Tyr
NM_000277.3:c.1016C>A MANE Select	NP_000268.1:p.Ser339Tyr
NM_001354304.2:c.1016C>A	NP_001341233.1:p.Ser339Tyr