Canonical Allele Identifier: CA682820895

Gene: PAH

Linked Data

• dbSNP Id: rs1482271515
• gnomAD v3: 12-102877342-C-A
• gnomAD v4: 12-102877342-C-A
• MyVariant Identifiers: chr12:g.103271120C>A (hg19) ; chr12:g.102877342C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877342C>A , CM000674.2:g.102877342C>A	GRCh38
NC_000012.11:g.103271120C>A , CM000674.1:g.103271120C>A	GRCh37
NC_000012.10:g.101795250C>A	NCBI36
NG_008690.1:g.45261G>T
NG_008690.2:g.86069G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.441+120G>T MANE Select	ENSP00000448059.1:n.441+120G>T
ENST00000307000.7:c.426+120G>T	ENSP00000303500.2:n.426+120G>T
ENST00000549111.5:n.537+120G>T
ENST00000550978.6:c.545G>T
ENST00000551988.5:n.530+120G>T
ENST00000553106.5:c.441+120G>T	ENSP00000448059.1:n.441+120G>T
NM_000277.1:c.441+120G>T	NP_000268.1:n.441+120G>T
XM_011538422.1:c.441+120G>T	XP_011536724.1:n.441+120G>T
NM_000277.2:c.441+120G>T	NP_000268.1:n.441+120G>T
NM_001354304.1:c.441+120G>T	NP_001341233.1:n.441+120G>T
XM_017019370.2:c.441+120G>T	XP_016874859.1:n.441+120G>T
NM_000277.3:c.441+120G>T MANE Select	NP_000268.1:n.441+120G>T
NM_001354304.2:c.441+120G>T	NP_001341233.1:n.441+120G>T