Canonical Allele Identifier: CA556485821

Gene: AGA

Linked Data

• dbSNP Id: rs762308507
• gnomAD v2: 4-178363627-C-G
• gnomAD v4: 4-177442473-C-G
• MyVariant Identifiers: chr4:g.178363627C>G (hg19) ; chr4:g.177442473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442473C>G , CM000666.2:g.177442473C>G	GRCh38
NC_000004.11:g.178363627C>G , CM000666.1:g.178363627C>G	GRCh37
NC_000004.10:g.178600621C>G	NCBI36
NG_011845.2:g.5031G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.6:c.-98G>C	ENSP00000264595.2:n.-98G>C
NM_000027.3:c.-98G>C	NP_000018.2:n.-98G>C
NM_001171988.1:c.-98G>C	NP_001165459.1:n.-98G>C
NR_033655.1:n.31G>C
XM_006714123.2:c.-98G>C	XP_006714186.1:n.-98G>C