Canonical Allele Identifier: CA358782224

Gene: AGA

Linked Data

• dbSNP Id: rs1489724730
• gnomAD v2: 4-178355581-G-C
• MyVariant Identifiers: chr4:g.178355581G>C (hg19) ; chr4:g.177434427G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434427G>C , CM000666.2:g.177434427G>C	GRCh38
NC_000004.11:g.178355581G>C , CM000666.1:g.178355581G>C	GRCh37
NC_000004.10:g.178592575G>C	NCBI36
NG_011845.2:g.13077C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.761C>G MANE Select	ENSP00000264595.2:p.Ala254Gly
ENST00000264595.6:c.761C>G	ENSP00000264595.2:p.Ala254Gly
ENST00000502310.5:c.332C>G	ENSP00000423798.1:p.Ala111Gly
ENST00000506853.5:n.719C>G
NM_000027.3:c.761C>G	NP_000018.2:p.Ala254Gly
NM_001171988.1:c.731C>G	NP_001165459.1:p.Ala244Gly
NR_033655.1:n.813C>G
XM_006714123.2:c.*55C>G	XP_006714186.1:n.*55C>G
XR_001741155.2:n.833C>G
NM_000027.4:c.761C>G MANE Select	NP_000018.2:p.Ala254Gly
NM_001171988.2:c.731C>G	NP_001165459.1:p.Ala244Gly
NR_033655.2:n.747C>G