Canonical Allele Identifier: CA3147100

Gene: AGA

Linked Data

• dbSNP Id: rs781045054
• ExAC: 4:178363548 C / G
• gnomAD v2: 4-178363548-C-G
• gnomAD v4: 4-177442394-C-G
• MyVariant Identifiers: chr4:g.178363548C>G (hg19) ; chr4:g.177442394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442394C>G , CM000666.2:g.177442394C>G	GRCh38
NC_000004.11:g.178363548C>G , CM000666.1:g.178363548C>G	GRCh37
NC_000004.10:g.178600542C>G	NCBI36
NG_011845.2:g.5110G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-19G>C MANE Select	ENSP00000264595.2:n.-19G>C
ENST00000264595.6:c.-19G>C	ENSP00000264595.2:n.-19G>C
ENST00000506853.5:n.16G>C
ENST00000510955.5:n.16G>C
ENST00000511231.1:n.16G>C
NM_000027.3:c.-19G>C	NP_000018.2:n.-19G>C
NM_001171988.1:c.-19G>C	NP_001165459.1:n.-19G>C
NR_033655.1:n.110G>C
XM_006714123.2:c.-19G>C	XP_006714186.1:n.-19G>C
XR_001741155.2:n.76G>C
NM_000027.4:c.-19G>C MANE Select	NP_000018.2:n.-19G>C
NM_001171988.2:c.-19G>C	NP_001165459.1:n.-19G>C
NR_033655.2:n.44G>C