Canonical Allele Identifier: CA481333221

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103288592C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894814C>G , CM000674.2:g.102894814C>G	GRCh38
NC_000012.11:g.103288592C>G , CM000674.1:g.103288592C>G	GRCh37
NC_000012.10:g.101812722C>G	NCBI36
NG_008690.1:g.27789G>C
NG_008690.2:g.68597G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.273G>C MANE Select	ENSP00000448059.1:p.Leu91=
ENST00000307000.7:c.258G>C	ENSP00000303500.2:p.Leu86=
ENST00000546844.1:c.273G>C	ENSP00000446658.1:p.Leu91=
ENST00000548677.2:n.360G>C
ENST00000548928.1:n.195G>C
ENST00000549111.5:n.369G>C
ENST00000550978.6:c.257G>C
ENST00000551337.5:c.273G>C	ENSP00000447620.1:p.Leu91=
ENST00000551988.5:n.362G>C
ENST00000553106.5:c.273G>C	ENSP00000448059.1:p.Leu91=
NM_000277.1:c.273G>C	NP_000268.1:p.Leu91=
XM_011538422.1:c.273G>C	XP_011536724.1:p.Leu91=
NM_000277.2:c.273G>C	NP_000268.1:p.Leu91=
NM_001354304.1:c.273G>C	NP_001341233.1:p.Leu91=
XM_017019370.2:c.273G>C	XP_016874859.1:p.Leu91=
NM_000277.3:c.273G>C MANE Select	NP_000268.1:p.Leu91=
NM_001354304.2:c.273G>C	NP_001341233.1:p.Leu91=