Canonical Allele Identifier: CA1515649369
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442316T= , CM000666.2:g.177442316T= GRCh38
NC_000004.11:g.178363470T= , CM000666.1:g.178363470T= GRCh37
NC_000004.10:g.178600464T= NCBI36
NG_011845.2:g.5188A=

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.60A= MANE Select ENSP00000264595.2:p.Leu20=
ENST00000264595.6:c.60A= ENSP00000264595.2:p.Leu20=
ENST00000506853.5:n.94A=
ENST00000510955.5:n.94A=
ENST00000511231.1:n.94A=
NM_000027.3:c.60A= NP_000018.2:p.Leu20=
NM_001171988.1:c.60A= NP_001165459.1:p.Leu20=
NR_033655.1:n.188A=
XM_006714123.2:c.60A= XP_006714186.1:p.Leu20=
XR_001741155.2:n.154A=
NM_000027.4:c.60A= MANE Select NP_000018.2:p.Leu20=
NM_001171988.2:c.60A= NP_001165459.1:p.Leu20=
NR_033655.2:n.122A=