Canonical Allele Identifier: CA386304029

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103288566T>A (hg19) ; chr12:g.102894788T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894788T>A , CM000674.2:g.102894788T>A	GRCh38
NC_000012.11:g.103288566T>A , CM000674.1:g.103288566T>A	GRCh37
NC_000012.10:g.101812696T>A	NCBI36
NG_008690.1:g.27815A>T
NG_008690.2:g.68623A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.299A>T MANE Select	ENSP00000448059.1:p.His100Leu
ENST00000307000.7:c.284A>T	ENSP00000303500.2:p.His95Leu
ENST00000546844.1:c.299A>T	ENSP00000446658.1:p.His100Leu
ENST00000548928.1:n.221A>T
ENST00000549111.5:n.395A>T
ENST00000550978.6:c.283A>T
ENST00000551337.5:c.299A>T	ENSP00000447620.1:p.His100Leu
ENST00000551988.5:n.388A>T
ENST00000553106.5:c.299A>T	ENSP00000448059.1:p.His100Leu
NM_000277.1:c.299A>T	NP_000268.1:p.His100Leu
XM_011538422.1:c.299A>T	XP_011536724.1:p.His100Leu
NM_000277.2:c.299A>T	NP_000268.1:p.His100Leu
NM_001354304.1:c.299A>T	NP_001341233.1:p.His100Leu
XM_017019370.2:c.299A>T	XP_016874859.1:p.His100Leu
NM_000277.3:c.299A>T MANE Select	NP_000268.1:p.His100Leu
NM_001354304.2:c.299A>T	NP_001341233.1:p.His100Leu