Canonical Allele Identifier: CA2578238543

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439562A>C , CM000666.2:g.177439562A>C	GRCh38
NC_000004.11:g.178360716A>C , CM000666.1:g.178360716A>C	GRCh37
NC_000004.10:g.178597710A>C	NCBI36
NG_011845.2:g.7942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+14T>G MANE Select	ENSP00000264595.2:n.394+14T>G
ENST00000264595.6:c.394+14T>G	ENSP00000264595.2:n.394+14T>G
ENST00000502310.5:c.49+14T>G	ENSP00000423798.1:n.49+14T>G
ENST00000506853.5:n.428+14T>G
ENST00000510635.1:c.90+14T>G
ENST00000510955.5:n.316-705T>G
NM_000027.3:c.394+14T>G	NP_000018.2:n.394+14T>G
NM_001171988.1:c.394+14T>G	NP_001165459.1:n.394+14T>G
NR_033655.1:n.522+14T>G
XM_006714123.2:c.394+14T>G	XP_006714186.1:n.394+14T>G
XR_001741155.2:n.488+14T>G
NM_000027.4:c.394+14T>G MANE Select	NP_000018.2:n.394+14T>G
NM_001171988.2:c.394+14T>G	NP_001165459.1:n.394+14T>G
NR_033655.2:n.456+14T>G