Canonical Allele Identifier: CA442332315

Gene: AGA

Linked Data

• gnomAD v4: 4-177434459-A-G
• MyVariant Identifiers: chr4:g.178355613A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434459A>G , CM000666.2:g.177434459A>G	GRCh38
NC_000004.11:g.178355613A>G , CM000666.1:g.178355613A>G	GRCh37
NC_000004.10:g.178592607A>G	NCBI36
NG_011845.2:g.13045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.729T>C MANE Select	ENSP00000264595.2:p.Ala243=
ENST00000264595.6:c.729T>C	ENSP00000264595.2:p.Ala243=
ENST00000502310.5:c.300T>C	ENSP00000423798.1:p.Ala100=
ENST00000506853.5:n.687T>C
ENST00000510635.1:c.395T>C
NM_000027.3:c.729T>C	NP_000018.2:p.Ala243=
NM_001171988.1:c.699T>C	NP_001165459.1:p.Ala233=
NR_033655.1:n.781T>C
XM_006714123.2:c.*23T>C	XP_006714186.1:n.*23T>C
XR_001741155.2:n.801T>C
NM_000027.4:c.729T>C MANE Select	NP_000018.2:p.Ala243=
NM_001171988.2:c.699T>C	NP_001165459.1:p.Ala233=
NR_033655.2:n.715T>C