Canonical Allele Identifier: CA1515641845
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437444G= , CM000666.2:g.177437444G= GRCh38
NC_000004.11:g.178358598G= , CM000666.1:g.178358598G= GRCh37
NC_000004.10:g.178595592G= NCBI36
NG_011845.2:g.10060C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.583C= MANE Select ENSP00000264595.2:p.His195=
ENST00000264595.6:c.583C= ENSP00000264595.2:p.His195=
ENST00000502310.5:c.238C= ENSP00000423798.1:p.His80=
ENST00000506853.5:n.617C=
ENST00000510635.1:c.279C=
ENST00000510955.5:n.504C=
NM_000027.3:c.583C= NP_000018.2:p.His195=
NM_001171988.1:c.583C= NP_001165459.1:p.His195=
NR_033655.1:n.711C=
XM_006714123.2:c.583C= XP_006714186.1:p.His195=
XR_001741155.2:n.677C=
NM_000027.4:c.583C= MANE Select NP_000018.2:p.His195=
NM_001171988.2:c.583C= NP_001165459.1:p.His195=
NR_033655.2:n.645C=