Canonical Allele Identifier: CA386493516

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103238202C>A (hg19) ; chr12:g.102844424C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844424C>A , CM000674.2:g.102844424C>A	GRCh38
NC_000012.11:g.103238202C>A , CM000674.1:g.103238202C>A	GRCh37
NC_000012.10:g.101762332C>A	NCBI36
NG_008690.1:g.78179G>T
NG_008690.2:g.118987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.977G>T MANE Select	ENSP00000448059.1:p.Trp326Leu
ENST00000307000.7:c.962G>T	ENSP00000303500.2:p.Trp321Leu
ENST00000549247.6:n.736G>T
ENST00000551114.2:n.639G>T
ENST00000553106.5:c.977G>T	ENSP00000448059.1:p.Trp326Leu
ENST00000635477.1:c.81G>T
ENST00000635528.1:n.492G>T
NM_000277.1:c.977G>T	NP_000268.1:p.Trp326Leu
XM_011538422.1:c.920G>T	XP_011536724.1:p.Trp307Leu
NM_000277.2:c.977G>T	NP_000268.1:p.Trp326Leu
NM_001354304.1:c.977G>T	NP_001341233.1:p.Trp326Leu
NM_000277.3:c.977G>T MANE Select	NP_000268.1:p.Trp326Leu
NM_001354304.2:c.977G>T	NP_001341233.1:p.Trp326Leu