Canonical Allele Identifier: CA3147089

Gene: AGA

Linked Data

• dbSNP Id: rs775687506
• ExAC: 4:178363531 C / G
• gnomAD v2: 4-178363531-C-G
• gnomAD v3: 4-177442377-C-G
• gnomAD v4: 4-177442377-C-G
• MyVariant Identifiers: chr4:g.178363531C>G (hg19) ; chr4:g.177442377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442377C>G , CM000666.2:g.177442377C>G	GRCh38
NC_000004.11:g.178363531C>G , CM000666.1:g.178363531C>G	GRCh37
NC_000004.10:g.178600525C>G	NCBI36
NG_011845.2:g.5127G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-2G>C MANE Select	ENSP00000264595.2:n.-2G>C
ENST00000264595.6:c.-2G>C	ENSP00000264595.2:n.-2G>C
ENST00000506853.5:n.33G>C
ENST00000510955.5:n.33G>C
ENST00000511231.1:n.33G>C
NM_000027.3:c.-2G>C	NP_000018.2:n.-2G>C
NM_001171988.1:c.-2G>C	NP_001165459.1:n.-2G>C
NR_033655.1:n.127G>C
XM_006714123.2:c.-2G>C	XP_006714186.1:n.-2G>C
XR_001741155.2:n.93G>C
NM_000027.4:c.-2G>C MANE Select	NP_000018.2:n.-2G>C
NM_001171988.2:c.-2G>C	NP_001165459.1:n.-2G>C
NR_033655.2:n.61G>C