Canonical Allele Identifier: CA2578238515

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438878A>G , CM000666.2:g.177438878A>G	GRCh38
NC_000004.11:g.178360032A>G , CM000666.1:g.178360032A>G	GRCh37
NC_000004.10:g.178597026A>G	NCBI36
NG_011845.2:g.8626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395-21T>C MANE Select	ENSP00000264595.2:n.395-21T>C
ENST00000264595.6:c.395-21T>C	ENSP00000264595.2:n.395-21T>C
ENST00000502310.5:c.50-21T>C	ENSP00000423798.1:n.50-21T>C
ENST00000506853.5:n.429-21T>C
ENST00000510635.1:c.91-21T>C
ENST00000510955.5:n.316-21T>C
NM_000027.3:c.395-21T>C	NP_000018.2:n.395-21T>C
NM_001171988.1:c.395-21T>C	NP_001165459.1:n.395-21T>C
NR_033655.1:n.523-21T>C
XM_006714123.2:c.395-21T>C	XP_006714186.1:n.395-21T>C
XR_001741155.2:n.489-21T>C
NM_000027.4:c.395-21T>C MANE Select	NP_000018.2:n.395-21T>C
NM_001171988.2:c.395-21T>C	NP_001165459.1:n.395-21T>C
NR_033655.2:n.457-21T>C