Canonical Allele Identifier: CA358784515

Gene: AGA

Linked Data

• gnomAD v4: 4-177440376-C-G
• MyVariant Identifiers: chr4:g.178361530C>G (hg19) ; chr4:g.177440376C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440376C>G , CM000666.2:g.177440376C>G	GRCh38
NC_000004.11:g.178361530C>G , CM000666.1:g.178361530C>G	GRCh37
NC_000004.10:g.178598524C>G	NCBI36
NG_011845.2:g.7128G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.178G>C MANE Select	ENSP00000264595.2:p.Gly60Arg
ENST00000264595.6:c.178G>C	ENSP00000264595.2:p.Gly60Arg
ENST00000506853.5:n.212G>C
ENST00000510955.5:n.212G>C
ENST00000511231.1:n.212G>C
NM_000027.3:c.178G>C	NP_000018.2:p.Gly60Arg
NM_001171988.1:c.178G>C	NP_001165459.1:p.Gly60Arg
NR_033655.1:n.306G>C
XM_006714123.2:c.178G>C	XP_006714186.1:p.Gly60Arg
XR_001741155.2:n.272G>C
NM_000027.4:c.178G>C MANE Select	NP_000018.2:p.Gly60Arg
NM_001171988.2:c.178G>C	NP_001165459.1:p.Gly60Arg
NR_033655.2:n.240G>C