Canonical Allele Identifier: CA1515641877
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437457C= , CM000666.2:g.177437457C= GRCh38
NC_000004.11:g.178358611C= , CM000666.1:g.178358611C= GRCh37
NC_000004.10:g.178595605C= NCBI36
NG_011845.2:g.10047G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.570G= MANE Select ENSP00000264595.2:p.Gln190=
ENST00000264595.6:c.570G= ENSP00000264595.2:p.Gln190=
ENST00000502310.5:c.225G= ENSP00000423798.1:p.Gln75=
ENST00000506853.5:n.604G=
ENST00000510635.1:c.266G=
ENST00000510955.5:n.491G=
NM_000027.3:c.570G= NP_000018.2:p.Gln190=
NM_001171988.1:c.570G= NP_001165459.1:p.Gln190=
NR_033655.1:n.698G=
XM_006714123.2:c.570G= XP_006714186.1:p.Gln190=
XR_001741155.2:n.664G=
NM_000027.4:c.570G= MANE Select NP_000018.2:p.Gln190=
NM_001171988.2:c.570G= NP_001165459.1:p.Gln190=
NR_033655.2:n.632G=