Canonical Allele Identifier: CA3146877

Gene: AGA

Linked Data

• dbSNP Id: rs374565717
• ExAC: 4:178358542 C / G
• gnomAD v2: 4-178358542-C-G
• gnomAD v4: 4-177437388-C-G
• MyVariant Identifiers: chr4:g.178358542C>G (hg19) ; chr4:g.177437388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437388C>G , CM000666.2:g.177437388C>G	GRCh38
NC_000004.11:g.178358542C>G , CM000666.1:g.178358542C>G	GRCh37
NC_000004.10:g.178595536C>G	NCBI36
NG_011845.2:g.10116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+17G>C MANE Select	ENSP00000264595.2:n.622+17G>C
ENST00000264595.6:c.622+17G>C	ENSP00000264595.2:n.622+17G>C
ENST00000502310.5:c.277+17G>C	ENSP00000423798.1:n.277+17G>C
ENST00000506853.5:n.656+17G>C
ENST00000510635.1:c.318+17G>C
ENST00000510955.5:n.560G>C
NM_000027.3:c.622+17G>C	NP_000018.2:n.622+17G>C
NM_001171988.1:c.622+17G>C	NP_001165459.1:n.622+17G>C
NR_033655.1:n.750+17G>C
XM_006714123.2:c.622+17G>C	XP_006714186.1:n.622+17G>C
XR_001741155.2:n.716+17G>C
NM_000027.4:c.622+17G>C MANE Select	NP_000018.2:n.622+17G>C
NM_001171988.2:c.622+17G>C	NP_001165459.1:n.622+17G>C
NR_033655.2:n.684+17G>C