Canonical Allele Identifier: CA1515648225
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177441851A= , CM000666.2:g.177441851A= GRCh38
NC_000004.11:g.178363005A= , CM000666.1:g.178363005A= GRCh37
NC_000004.10:g.178599999A= NCBI36
NG_011845.2:g.5653T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.127+398T= MANE Select ENSP00000264595.2:n.127+398T=
ENST00000264595.6:c.127+398T= ENSP00000264595.2:n.127+398T=
ENST00000506853.5:n.161+398T=
ENST00000510955.5:n.161+398T=
ENST00000511231.1:n.161+398T=
NM_000027.3:c.127+398T= NP_000018.2:n.127+398T=
NM_001171988.1:c.127+398T= NP_001165459.1:n.127+398T=
NR_033655.1:n.255+398T=
XM_006714123.2:c.127+398T= XP_006714186.1:n.127+398T=
XR_001741155.2:n.221+398T=
NM_000027.4:c.127+398T= MANE Select NP_000018.2:n.127+398T=
NM_001171988.2:c.127+398T= NP_001165459.1:n.127+398T=
NR_033655.2:n.189+398T=