Canonical Allele Identifier: CA3147104

Gene: AGA

Linked Data

• dbSNP Id: rs778944888
• ExAC: 4:178363564 C / G
• gnomAD v2: 4-178363564-C-G
• gnomAD v4: 4-177442410-C-G
• MyVariant Identifiers: chr4:g.178363564C>G (hg19) ; chr4:g.177442410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442410C>G , CM000666.2:g.177442410C>G	GRCh38
NC_000004.11:g.178363564C>G , CM000666.1:g.178363564C>G	GRCh37
NC_000004.10:g.178600558C>G	NCBI36
NG_011845.2:g.5094G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-35G>C MANE Select	ENSP00000264595.2:n.-35G>C
ENST00000264595.6:c.-35G>C	ENSP00000264595.2:n.-35G>C
NM_000027.3:c.-35G>C	NP_000018.2:n.-35G>C
NM_001171988.1:c.-35G>C	NP_001165459.1:n.-35G>C
NR_033655.1:n.94G>C
XM_006714123.2:c.-35G>C	XP_006714186.1:n.-35G>C
XR_001741155.2:n.60G>C
NM_000027.4:c.-35G>C MANE Select	NP_000018.2:n.-35G>C
NM_001171988.2:c.-35G>C	NP_001165459.1:n.-35G>C
NR_033655.2:n.28G>C