Canonical Allele Identifier: CA951260782

Gene: PAH

Linked Data

• ClinVar Variation Id: 1396996
• ClinVar RCV Id: RCV001920097
• dbSNP Id: rs1878413079
• gnomAD v3: 12-102917094-TG-T
• gnomAD v4: 12-102917094-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917095del , CM000674.2:g.102917095del	GRCh38
NC_000012.11:g.103310873del , CM000674.1:g.103310873del	GRCh37
NC_000012.10:g.101835003del	NCBI36
NG_008690.1:g.5508del
NG_008690.2:g.46316del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.36del MANE Select	ENSP00000448059.1:p.Arg13GlyfsTer25
ENST00000307000.7:c.-112del	ENSP00000303500.2:n.-112del
ENST00000546844.1:c.36del	ENSP00000446658.1:p.Arg13GlyfsTer25
ENST00000547319.1:n.347del
ENST00000549111.5:n.132del
ENST00000550978.6:c.20del
ENST00000551337.5:c.36del	ENSP00000447620.1:p.Arg13GlyfsTer25
ENST00000551988.5:n.125del
ENST00000553106.5:c.36del	ENSP00000448059.1:p.Arg13GlyfsTer25
ENST00000635500.1:n.29-4197del
NM_000277.1:c.36del	NP_000268.1:p.Arg13GlyfsTer25
XM_011538422.1:c.36del	XP_011536724.1:p.Arg13GlyfsTer25
NM_000277.2:c.36del	NP_000268.1:p.Arg13GlyfsTer25
NM_001354304.1:c.36del	NP_001341233.1:p.Arg13GlyfsTer25
XM_017019370.2:c.36del	XP_016874859.1:p.Arg13GlyfsTer25
NM_000277.3:c.36del MANE Select	NP_000268.1:p.Arg13GlyfsTer25
NM_001354304.2:c.36del	NP_001341233.1:p.Arg13GlyfsTer25