Canonical Allele Identifier: CA481331317

Gene: PAH

Linked Data

• gnomAD v4: 12-102851740-G-A
• MyVariant Identifiers: chr12:g.103245518G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851740G>A , CM000674.2:g.102851740G>A	GRCh38
NC_000012.11:g.103245518G>A , CM000674.1:g.103245518G>A	GRCh37
NC_000012.10:g.101769648G>A	NCBI36
NG_008690.1:g.70863C>T
NG_008690.2:g.111671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.859C>T MANE Select	ENSP00000448059.1:p.Leu287=
ENST00000307000.7:c.844C>T	ENSP00000303500.2:p.Leu282=
ENST00000549247.6:n.618C>T
ENST00000551114.2:n.521C>T
ENST00000553106.5:c.859C>T	ENSP00000448059.1:p.Leu287=
ENST00000635477.1:c.20C>T
NM_000277.1:c.859C>T	NP_000268.1:p.Leu287=
XM_011538422.1:c.859C>T	XP_011536724.1:p.Leu287=
NM_000277.2:c.859C>T	NP_000268.1:p.Leu287=
NM_001354304.1:c.859C>T	NP_001341233.1:p.Leu287=
NM_000277.3:c.859C>T MANE Select	NP_000268.1:p.Leu287=
NM_001354304.2:c.859C>T	NP_001341233.1:p.Leu287=