Canonical Allele Identifier: CA2578238525

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439477T>C , CM000666.2:g.177439477T>C	GRCh38
NC_000004.11:g.178360631T>C , CM000666.1:g.178360631T>C	GRCh37
NC_000004.10:g.178597625T>C	NCBI36
NG_011845.2:g.8027A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+99A>G MANE Select	ENSP00000264595.2:n.394+99A>G
ENST00000264595.6:c.394+99A>G	ENSP00000264595.2:n.394+99A>G
ENST00000502310.5:c.49+99A>G	ENSP00000423798.1:n.49+99A>G
ENST00000506853.5:n.428+99A>G
ENST00000510635.1:c.90+99A>G
ENST00000510955.5:n.316-620A>G
NM_000027.3:c.394+99A>G	NP_000018.2:n.394+99A>G
NM_001171988.1:c.394+99A>G	NP_001165459.1:n.394+99A>G
NR_033655.1:n.522+99A>G
XM_006714123.2:c.394+99A>G	XP_006714186.1:n.394+99A>G
XR_001741155.2:n.488+99A>G
NM_000027.4:c.394+99A>G MANE Select	NP_000018.2:n.394+99A>G
NM_001171988.2:c.394+99A>G	NP_001165459.1:n.394+99A>G
NR_033655.2:n.456+99A>G