Canonical Allele Identifier: CA2672748436

Gene: AGA

Linked Data

• dbSNP Id: rs1040597958
• gnomAD v4: 4-177440565-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440565T>C , CM000666.2:g.177440565T>C	GRCh38
NC_000004.11:g.178361719T>C , CM000666.1:g.178361719T>C	GRCh37
NC_000004.10:g.178598713T>C	NCBI36
NG_011845.2:g.6939A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-139A>G MANE Select	ENSP00000264595.2:n.128-139A>G
ENST00000264595.6:c.128-139A>G	ENSP00000264595.2:n.128-139A>G
ENST00000506853.5:n.162-139A>G
ENST00000510955.5:n.162-139A>G
ENST00000511231.1:n.162-139A>G
NM_000027.3:c.128-139A>G	NP_000018.2:n.128-139A>G
NM_001171988.1:c.128-139A>G	NP_001165459.1:n.128-139A>G
NR_033655.1:n.256-139A>G
XM_006714123.2:c.128-139A>G	XP_006714186.1:n.128-139A>G
XR_001741155.2:n.222-139A>G
NM_000027.4:c.128-139A>G MANE Select	NP_000018.2:n.128-139A>G
NM_001171988.2:c.128-139A>G	NP_001165459.1:n.128-139A>G
NR_033655.2:n.190-139A>G