Canonical Allele Identifier: CA2578238546

Gene: AGA

Linked Data

• ClinVar Variation Id: 2418648
• ClinVar RCV Id: RCV003121397

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439705T>A , CM000666.2:g.177439705T>A	GRCh38
NC_000004.11:g.178360859T>A , CM000666.1:g.178360859T>A	GRCh37
NC_000004.10:g.178597853T>A	NCBI36
NG_011845.2:g.7799A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-17A>T MANE Select	ENSP00000264595.2:n.282-17A>T
ENST00000264595.6:c.282-17A>T	ENSP00000264595.2:n.282-17A>T
ENST00000506853.5:n.316-17A>T
ENST00000510955.5:n.315+568A>T
NM_000027.3:c.282-17A>T	NP_000018.2:n.282-17A>T
NM_001171988.1:c.282-17A>T	NP_001165459.1:n.282-17A>T
NR_033655.1:n.410-17A>T
XM_006714123.2:c.282-17A>T	XP_006714186.1:n.282-17A>T
XR_001741155.2:n.376-17A>T
NM_000027.4:c.282-17A>T MANE Select	NP_000018.2:n.282-17A>T
NM_001171988.2:c.282-17A>T	NP_001165459.1:n.282-17A>T
NR_033655.2:n.344-17A>T