Canonical Allele Identifier: CA358785163

Gene: AGA

Linked Data

• dbSNP Id: rs1455250192
• gnomAD v2: 4-178363499-G-C
• gnomAD v4: 4-177442345-G-C
• MyVariant Identifiers: chr4:g.178363499G>C (hg19) ; chr4:g.177442345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442345G>C , CM000666.2:g.177442345G>C	GRCh38
NC_000004.11:g.178363499G>C , CM000666.1:g.178363499G>C	GRCh37
NC_000004.10:g.178600493G>C	NCBI36
NG_011845.2:g.5159C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.31C>G MANE Select	ENSP00000264595.2:p.Leu11Val
ENST00000264595.6:c.31C>G	ENSP00000264595.2:p.Leu11Val
ENST00000506853.5:n.65C>G
ENST00000510955.5:n.65C>G
ENST00000511231.1:n.65C>G
NM_000027.3:c.31C>G	NP_000018.2:p.Leu11Val
NM_001171988.1:c.31C>G	NP_001165459.1:p.Leu11Val
NR_033655.1:n.159C>G
XM_006714123.2:c.31C>G	XP_006714186.1:p.Leu11Val
XR_001741155.2:n.125C>G
NM_000027.4:c.31C>G MANE Select	NP_000018.2:p.Leu11Val
NM_001171988.2:c.31C>G	NP_001165459.1:p.Leu11Val
NR_033655.2:n.93C>G