Canonical Allele Identifier: CA442332579

Gene: AGA

Linked Data

• ClinVar Variation Id: 2782898
• ClinVar RCV Id: RCV003598262
• MyVariant Identifiers: chr4:g.178358599G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437445G>T , CM000666.2:g.177437445G>T	GRCh38
NC_000004.11:g.178358599G>T , CM000666.1:g.178358599G>T	GRCh37
NC_000004.10:g.178595593G>T	NCBI36
NG_011845.2:g.10059C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.582C>A MANE Select	ENSP00000264595.2:p.Ile194=
ENST00000264595.6:c.582C>A	ENSP00000264595.2:p.Ile194=
ENST00000502310.5:c.237C>A	ENSP00000423798.1:p.Ile79=
ENST00000506853.5:n.616C>A
ENST00000510635.1:c.278C>A
ENST00000510955.5:n.503C>A
NM_000027.3:c.582C>A	NP_000018.2:p.Ile194=
NM_001171988.1:c.582C>A	NP_001165459.1:p.Ile194=
NR_033655.1:n.710C>A
XM_006714123.2:c.582C>A	XP_006714186.1:p.Ile194=
XR_001741155.2:n.676C>A
NM_000027.4:c.582C>A MANE Select	NP_000018.2:p.Ile194=
NM_001171988.2:c.582C>A	NP_001165459.1:p.Ile194=
NR_033655.2:n.644C>A