Canonical Allele Identifier: CA1515649916

Gene: AGA

Linked Data

• dbSNP Id: rs1579047963
• gnomAD v4: 4-177442446-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442446G>C , CM000666.2:g.177442446G>C	GRCh38
NC_000004.11:g.178363600G>C , CM000666.1:g.178363600G>C	GRCh37
NC_000004.10:g.178600594G>C	NCBI36
NG_011845.2:g.5058C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.6:c.-71C>G	ENSP00000264595.2:n.-71C>G
NM_000027.3:c.-71C>G	NP_000018.2:n.-71C>G
NM_001171988.1:c.-71C>G	NP_001165459.1:n.-71C>G
NR_033655.1:n.58C>G
XM_006714123.2:c.-71C>G	XP_006714186.1:n.-71C>G
XR_001741155.2:n.24C>G