Canonical Allele Identifier: CA1071328549

Gene: AGA

Linked Data

• dbSNP Id: rs1736745273
• gnomAD v3: 4-177434528-G-C
• gnomAD v4: 4-177434528-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434528G>C , CM000666.2:g.177434528G>C	GRCh38
NC_000004.11:g.178355682G>C , CM000666.1:g.178355682G>C	GRCh37
NC_000004.10:g.178592676G>C	NCBI36
NG_011845.2:g.12976C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-39C>G MANE Select	ENSP00000264595.2:n.699-39C>G
ENST00000264595.6:c.699-39C>G	ENSP00000264595.2:n.699-39C>G
ENST00000502310.5:c.278-47C>G	ENSP00000423798.1:n.278-47C>G
ENST00000506853.5:n.657-39C>G
ENST00000510635.1:c.373-47C>G
NM_000027.3:c.699-39C>G	NP_000018.2:n.699-39C>G
NM_001171988.1:c.677-47C>G	NP_001165459.1:n.677-47C>G
NR_033655.1:n.751-39C>G
XM_006714123.2:c.677-39C>G	XP_006714186.1:n.677-39C>G
XR_001741155.2:n.771-39C>G
NM_000027.4:c.699-39C>G MANE Select	NP_000018.2:n.699-39C>G
NM_001171988.2:c.677-47C>G	NP_001165459.1:n.677-47C>G
NR_033655.2:n.685-39C>G