Canonical Allele Identifier: CA358783706

Gene: AGA

Linked Data

• dbSNP Id: rs1300076945
• gnomAD v2: 4-178360793-C-G
• MyVariant Identifiers: chr4:g.178360793C>G (hg19) ; chr4:g.177439639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439639C>G , CM000666.2:g.177439639C>G	GRCh38
NC_000004.11:g.178360793C>G , CM000666.1:g.178360793C>G	GRCh37
NC_000004.10:g.178597787C>G	NCBI36
NG_011845.2:g.7865G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.331G>C MANE Select	ENSP00000264595.2:p.Ala111Pro
ENST00000264595.6:c.331G>C	ENSP00000264595.2:p.Ala111Pro
ENST00000506853.5:n.365G>C
ENST00000510635.1:c.27G>C
ENST00000510955.5:n.315+634G>C
NM_000027.3:c.331G>C	NP_000018.2:p.Ala111Pro
NM_001171988.1:c.331G>C	NP_001165459.1:p.Ala111Pro
NR_033655.1:n.459G>C
XM_006714123.2:c.331G>C	XP_006714186.1:p.Ala111Pro
XR_001741155.2:n.425G>C
NM_000027.4:c.331G>C MANE Select	NP_000018.2:p.Ala111Pro
NM_001171988.2:c.331G>C	NP_001165459.1:p.Ala111Pro
NR_033655.2:n.393G>C