Canonical Allele Identifier: CA2578238495

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438658T>C , CM000666.2:g.177438658T>C	GRCh38
NC_000004.11:g.178359812T>C , CM000666.1:g.178359812T>C	GRCh37
NC_000004.10:g.178596806T>C	NCBI36
NG_011845.2:g.8846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.507+87A>G MANE Select	ENSP00000264595.2:n.507+87A>G
ENST00000264595.6:c.507+87A>G	ENSP00000264595.2:n.507+87A>G
ENST00000502310.5:c.162+87A>G	ENSP00000423798.1:n.162+87A>G
ENST00000506853.5:n.541+87A>G
ENST00000510635.1:c.203+87A>G
ENST00000510955.5:n.428+87A>G
NM_000027.3:c.507+87A>G	NP_000018.2:n.507+87A>G
NM_001171988.1:c.507+87A>G	NP_001165459.1:n.507+87A>G
NR_033655.1:n.635+87A>G
XM_006714123.2:c.507+87A>G	XP_006714186.1:n.507+87A>G
XR_001741155.2:n.601+87A>G
NM_000027.4:c.507+87A>G MANE Select	NP_000018.2:n.507+87A>G
NM_001171988.2:c.507+87A>G	NP_001165459.1:n.507+87A>G
NR_033655.2:n.569+87A>G