Canonical Allele Identifier: CA110789734

Gene: AGA

Linked Data

• dbSNP Id: rs374995967
• MyVariant Identifiers: chr4:g.177438883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438883T>G , CM000666.2:g.177438883T>G	GRCh38
NC_000004.11:g.178360037T>G , CM000666.1:g.178360037T>G	GRCh37
NC_000004.10:g.178597031T>G	NCBI36
NG_011845.2:g.8621A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395-26A>C MANE Select	ENSP00000264595.2:n.395-26A>C
ENST00000264595.6:c.395-26A>C	ENSP00000264595.2:n.395-26A>C
ENST00000502310.5:c.50-26A>C	ENSP00000423798.1:n.50-26A>C
ENST00000506853.5:n.429-26A>C
ENST00000510635.1:c.91-26A>C
ENST00000510955.5:n.316-26A>C
NM_000027.3:c.395-26A>C	NP_000018.2:n.395-26A>C
NM_001171988.1:c.395-26A>C	NP_001165459.1:n.395-26A>C
NR_033655.1:n.523-26A>C
XM_006714123.2:c.395-26A>C	XP_006714186.1:n.395-26A>C
XR_001741155.2:n.489-26A>C
NM_000027.4:c.395-26A>C MANE Select	NP_000018.2:n.395-26A>C
NM_001171988.2:c.395-26A>C	NP_001165459.1:n.395-26A>C
NR_033655.2:n.457-26A>C