Canonical Allele Identifier: CA1515641830
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437429C= , CM000666.2:g.177437429C= GRCh38
NC_000004.11:g.178358583C= , CM000666.1:g.178358583C= GRCh37
NC_000004.10:g.178595577C= NCBI36
NG_011845.2:g.10075G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.598G= MANE Select ENSP00000264595.2:p.Asp200=
ENST00000264595.6:c.598G= ENSP00000264595.2:p.Asp200=
ENST00000502310.5:c.253G= ENSP00000423798.1:p.Asp85=
ENST00000506853.5:n.632G=
ENST00000510635.1:c.294G=
ENST00000510955.5:n.519G=
NM_000027.3:c.598G= NP_000018.2:p.Asp200=
NM_001171988.1:c.598G= NP_001165459.1:p.Asp200=
NR_033655.1:n.726G=
XM_006714123.2:c.598G= XP_006714186.1:p.Asp200=
XR_001741155.2:n.692G=
NM_000027.4:c.598G= MANE Select NP_000018.2:p.Asp200=
NM_001171988.2:c.598G= NP_001165459.1:p.Asp200=
NR_033655.2:n.660G=