Canonical Allele Identifier: CA1515648572
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442041G= , CM000666.2:g.177442041G= GRCh38
NC_000004.11:g.178363195G= , CM000666.1:g.178363195G= GRCh37
NC_000004.10:g.178600189G= NCBI36
NG_011845.2:g.5463C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.127+208C= MANE Select ENSP00000264595.2:n.127+208C=
ENST00000264595.6:c.127+208C= ENSP00000264595.2:n.127+208C=
ENST00000506853.5:n.161+208C=
ENST00000510955.5:n.161+208C=
ENST00000511231.1:n.161+208C=
NM_000027.3:c.127+208C= NP_000018.2:n.127+208C=
NM_001171988.1:c.127+208C= NP_001165459.1:n.127+208C=
NR_033655.1:n.255+208C=
XM_006714123.2:c.127+208C= XP_006714186.1:n.127+208C=
XR_001741155.2:n.221+208C=
NM_000027.4:c.127+208C= MANE Select NP_000018.2:n.127+208C=
NM_001171988.2:c.127+208C= NP_001165459.1:n.127+208C=
NR_033655.2:n.189+208C=