Canonical Allele Identifier: CA2672747979

Gene: AGA

Linked Data

• gnomAD v4: 4-177439715-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439715A>C , CM000666.2:g.177439715A>C	GRCh38
NC_000004.11:g.178360869A>C , CM000666.1:g.178360869A>C	GRCh37
NC_000004.10:g.178597863A>C	NCBI36
NG_011845.2:g.7789T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-27T>G MANE Select	ENSP00000264595.2:n.282-27T>G
ENST00000264595.6:c.282-27T>G	ENSP00000264595.2:n.282-27T>G
ENST00000506853.5:n.316-27T>G
ENST00000510955.5:n.315+558T>G
NM_000027.3:c.282-27T>G	NP_000018.2:n.282-27T>G
NM_001171988.1:c.282-27T>G	NP_001165459.1:n.282-27T>G
NR_033655.1:n.410-27T>G
XM_006714123.2:c.282-27T>G	XP_006714186.1:n.282-27T>G
XR_001741155.2:n.376-27T>G
NM_000027.4:c.282-27T>G MANE Select	NP_000018.2:n.282-27T>G
NM_001171988.2:c.282-27T>G	NP_001165459.1:n.282-27T>G
NR_033655.2:n.344-27T>G