Canonical Allele Identifier: CA1515644246
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439265C= , CM000666.2:g.177439265C= GRCh38
NC_000004.11:g.178360419C= , CM000666.1:g.178360419C= GRCh37
NC_000004.10:g.178597413C= NCBI36
NG_011845.2:g.8239G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.394+311G= MANE Select ENSP00000264595.2:n.394+311G=
ENST00000264595.6:c.394+311G= ENSP00000264595.2:n.394+311G=
ENST00000502310.5:c.49+311G= ENSP00000423798.1:n.49+311G=
ENST00000506853.5:n.428+311G=
ENST00000510635.1:c.90+311G=
ENST00000510955.5:n.316-408G=
NM_000027.3:c.394+311G= NP_000018.2:n.394+311G=
NM_001171988.1:c.394+311G= NP_001165459.1:n.394+311G=
NR_033655.1:n.522+311G=
XM_006714123.2:c.394+311G= XP_006714186.1:n.394+311G=
XR_001741155.2:n.488+311G=
NM_000027.4:c.394+311G= MANE Select NP_000018.2:n.394+311G=
NM_001171988.2:c.394+311G= NP_001165459.1:n.394+311G=
NR_033655.2:n.456+311G=