Canonical Allele Identifier: CA386304064

Gene: PAH

Linked Data

• dbSNP Id: rs62508682
• MyVariant Identifiers: chr12:g.103288582T>G (hg19) ; chr12:g.102894804T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894804T>G , CM000674.2:g.102894804T>G	GRCh38
NC_000012.11:g.103288582T>G , CM000674.1:g.103288582T>G	GRCh37
NC_000012.10:g.101812712T>G	NCBI36
NG_008690.1:g.27799A>C
NG_008690.2:g.68607A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.283A>C MANE Select	ENSP00000448059.1:p.Ile95Leu
ENST00000307000.7:c.268A>C	ENSP00000303500.2:p.Ile90Leu
ENST00000546844.1:c.283A>C	ENSP00000446658.1:p.Ile95Leu
ENST00000548677.2:n.370A>C
ENST00000548928.1:n.205A>C
ENST00000549111.5:n.379A>C
ENST00000550978.6:c.267A>C
ENST00000551337.5:c.283A>C	ENSP00000447620.1:p.Ile95Leu
ENST00000551988.5:n.372A>C
ENST00000553106.5:c.283A>C	ENSP00000448059.1:p.Ile95Leu
NM_000277.1:c.283A>C	NP_000268.1:p.Ile95Leu
XM_011538422.1:c.283A>C	XP_011536724.1:p.Ile95Leu
NM_000277.2:c.283A>C	NP_000268.1:p.Ile95Leu
NM_001354304.1:c.283A>C	NP_001341233.1:p.Ile95Leu
XM_017019370.2:c.283A>C	XP_016874859.1:p.Ile95Leu
NM_000277.3:c.283A>C MANE Select	NP_000268.1:p.Ile95Leu
NM_001354304.2:c.283A>C	NP_001341233.1:p.Ile95Leu