Canonical Allele Identifier: CA481332693

Gene: PAH

Linked Data

• gnomAD v4: 12-102877516-G-A
• MyVariant Identifiers: chr12:g.103271294G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877516G>A , CM000674.2:g.102877516G>A	GRCh38
NC_000012.11:g.103271294G>A , CM000674.1:g.103271294G>A	GRCh37
NC_000012.10:g.101795424G>A	NCBI36
NG_008690.1:g.45087C>T
NG_008690.2:g.85895C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.387C>T MANE Select	ENSP00000448059.1:p.Asp129=
ENST00000307000.7:c.372C>T	ENSP00000303500.2:p.Asp124=
ENST00000549111.5:n.483C>T
ENST00000550978.6:c.371C>T
ENST00000551337.5:c.387C>T	ENSP00000447620.1:p.Asp129=
ENST00000551988.5:n.476C>T
ENST00000553106.5:c.387C>T	ENSP00000448059.1:p.Asp129=
NM_000277.1:c.387C>T	NP_000268.1:p.Asp129=
XM_011538422.1:c.387C>T	XP_011536724.1:p.Asp129=
NM_000277.2:c.387C>T	NP_000268.1:p.Asp129=
NM_001354304.1:c.387C>T	NP_001341233.1:p.Asp129=
XM_017019370.2:c.387C>T	XP_016874859.1:p.Asp129=
NM_000277.3:c.387C>T MANE Select	NP_000268.1:p.Asp129=
NM_001354304.2:c.387C>T	NP_001341233.1:p.Asp129=