Canonical Allele Identifier: CA358783417

Gene: AGA

Linked Data

• dbSNP Id: rs1473223295
• gnomAD v2: 4-178359987-C-G
• gnomAD v4: 4-177438833-C-G
• MyVariant Identifiers: chr4:g.178359987C>G (hg19) ; chr4:g.177438833C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438833C>G , CM000666.2:g.177438833C>G	GRCh38
NC_000004.11:g.178359987C>G , CM000666.1:g.178359987C>G	GRCh37
NC_000004.10:g.178596981C>G	NCBI36
NG_011845.2:g.8671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.419G>C MANE Select	ENSP00000264595.2:p.Gly140Ala
ENST00000264595.6:c.419G>C	ENSP00000264595.2:p.Gly140Ala
ENST00000502310.5:c.74G>C	ENSP00000423798.1:p.Gly25Ala
ENST00000506853.5:n.453G>C
ENST00000510635.1:c.115G>C
ENST00000510955.5:n.340G>C
NM_000027.3:c.419G>C	NP_000018.2:p.Gly140Ala
NM_001171988.1:c.419G>C	NP_001165459.1:p.Gly140Ala
NR_033655.1:n.547G>C
XM_006714123.2:c.419G>C	XP_006714186.1:p.Gly140Ala
XR_001741155.2:n.513G>C
NM_000027.4:c.419G>C MANE Select	NP_000018.2:p.Gly140Ala
NM_001171988.2:c.419G>C	NP_001165459.1:p.Gly140Ala
NR_033655.2:n.481G>C