Canonical Allele Identifier: CA386304128

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103288617A>T (hg19) ; chr12:g.102894839A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894839A>T , CM000674.2:g.102894839A>T	GRCh38
NC_000012.11:g.103288617A>T , CM000674.1:g.103288617A>T	GRCh37
NC_000012.10:g.101812747A>T	NCBI36
NG_008690.1:g.27764T>A
NG_008690.2:g.68572T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.248T>A MANE Select	ENSP00000448059.1:p.Leu83Ter
ENST00000307000.7:c.233T>A	ENSP00000303500.2:p.Leu78Ter
ENST00000546844.1:c.248T>A	ENSP00000446658.1:p.Leu83Ter
ENST00000548677.2:n.335T>A
ENST00000548928.1:n.170T>A
ENST00000549111.5:n.344T>A
ENST00000550978.6:c.232T>A
ENST00000551337.5:c.248T>A	ENSP00000447620.1:p.Leu83Ter
ENST00000551988.5:n.337T>A
ENST00000553106.5:c.248T>A	ENSP00000448059.1:p.Leu83Ter
NM_000277.1:c.248T>A	NP_000268.1:p.Leu83Ter
XM_011538422.1:c.248T>A	XP_011536724.1:p.Leu83Ter
NM_000277.2:c.248T>A	NP_000268.1:p.Leu83Ter
NM_001354304.1:c.248T>A	NP_001341233.1:p.Leu83Ter
XM_017019370.2:c.248T>A	XP_016874859.1:p.Leu83Ter
NM_000277.3:c.248T>A MANE Select	NP_000268.1:p.Leu83Ter
NM_001354304.2:c.248T>A	NP_001341233.1:p.Leu83Ter