Canonical Allele Identifier: CA1515641967
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437497T= , CM000666.2:g.177437497T= GRCh38
NC_000004.11:g.178358651T= , CM000666.1:g.178358651T= GRCh37
NC_000004.10:g.178595645T= NCBI36
NG_011845.2:g.10007A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.530A= MANE Select ENSP00000264595.2:p.Lys177=
ENST00000264595.6:c.530A= ENSP00000264595.2:p.Lys177=
ENST00000502310.5:c.185A= ENSP00000423798.1:p.Lys62=
ENST00000506853.5:n.564A=
ENST00000510635.1:c.226A=
ENST00000510955.5:n.451A=
NM_000027.3:c.530A= NP_000018.2:p.Lys177=
NM_001171988.1:c.530A= NP_001165459.1:p.Lys177=
NR_033655.1:n.658A=
XM_006714123.2:c.530A= XP_006714186.1:p.Lys177=
XR_001741155.2:n.624A=
NM_000027.4:c.530A= MANE Select NP_000018.2:p.Lys177=
NM_001171988.2:c.530A= NP_001165459.1:p.Lys177=
NR_033655.2:n.592A=