Canonical Allele Identifier: CA2578238517

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438899T>A , CM000666.2:g.177438899T>A	GRCh38
NC_000004.11:g.178360053T>A , CM000666.1:g.178360053T>A	GRCh37
NC_000004.10:g.178597047T>A	NCBI36
NG_011845.2:g.8605A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395-42A>T MANE Select	ENSP00000264595.2:n.395-42A>T
ENST00000264595.6:c.395-42A>T	ENSP00000264595.2:n.395-42A>T
ENST00000502310.5:c.50-42A>T	ENSP00000423798.1:n.50-42A>T
ENST00000506853.5:n.429-42A>T
ENST00000510635.1:c.91-42A>T
ENST00000510955.5:n.316-42A>T
NM_000027.3:c.395-42A>T	NP_000018.2:n.395-42A>T
NM_001171988.1:c.395-42A>T	NP_001165459.1:n.395-42A>T
NR_033655.1:n.523-42A>T
XM_006714123.2:c.395-42A>T	XP_006714186.1:n.395-42A>T
XR_001741155.2:n.489-42A>T
NM_000027.4:c.395-42A>T MANE Select	NP_000018.2:n.395-42A>T
NM_001171988.2:c.395-42A>T	NP_001165459.1:n.395-42A>T
NR_033655.2:n.457-42A>T