Canonical Allele Identifier: CA386493481

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103238181A>T (hg19) ; chr12:g.102844403A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844403A>T , CM000674.2:g.102844403A>T	GRCh38
NC_000012.11:g.103238181A>T , CM000674.1:g.103238181A>T	GRCh37
NC_000012.10:g.101762311A>T	NCBI36
NG_008690.1:g.78200T>A
NG_008690.2:g.119008T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.998T>A MANE Select	ENSP00000448059.1:p.Leu333His
ENST00000307000.7:c.983T>A	ENSP00000303500.2:p.Leu328His
ENST00000549247.6:n.757T>A
ENST00000551114.2:n.660T>A
ENST00000553106.5:c.998T>A	ENSP00000448059.1:p.Leu333His
ENST00000635477.1:c.102T>A
ENST00000635528.1:n.513T>A
NM_000277.1:c.998T>A	NP_000268.1:p.Leu333His
XM_011538422.1:c.941T>A	XP_011536724.1:p.Leu314His
NM_000277.2:c.998T>A	NP_000268.1:p.Leu333His
NM_001354304.1:c.998T>A	NP_001341233.1:p.Leu333His
NM_000277.3:c.998T>A MANE Select	NP_000268.1:p.Leu333His
NM_001354304.2:c.998T>A	NP_001341233.1:p.Leu333His