Canonical Allele Identifier: CA3147137

Gene: AGA

Linked Data

• dbSNP Id: rs778276574
• ExAC: 4:178363637 G / A
• gnomAD v2: 4-178363637-G-A
• gnomAD v3: 4-177442483-G-A
• gnomAD v4: 4-177442483-G-A
• MyVariant Identifiers: chr4:g.178363637G>A (hg19) ; chr4:g.177442483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442483G>A , CM000666.2:g.177442483G>A	GRCh38
NC_000004.11:g.178363637G>A , CM000666.1:g.178363637G>A	GRCh37
NC_000004.10:g.178600631G>A	NCBI36
NG_011845.2:g.5021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.6:c.-108C>T	ENSP00000264595.2:n.-108C>T
NM_000027.3:c.-108C>T	NP_000018.2:n.-108C>T
NM_001171988.1:c.-108C>T	NP_001165459.1:n.-108C>T
NR_033655.1:n.21C>T
XM_006714123.2:c.-108C>T	XP_006714186.1:n.-108C>T