Canonical Allele Identifier: CA1515641597
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437262C= , CM000666.2:g.177437262C= GRCh38
NC_000004.11:g.178358416C= , CM000666.1:g.178358416C= GRCh37
NC_000004.10:g.178595410C= NCBI36
NG_011845.2:g.10242G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.622+143G= MANE Select ENSP00000264595.2:n.622+143G=
ENST00000264595.6:c.622+143G= ENSP00000264595.2:n.622+143G=
ENST00000502310.5:c.277+143G= ENSP00000423798.1:n.277+143G=
ENST00000506853.5:n.656+143G=
ENST00000510635.1:c.318+143G=
ENST00000510955.5:n.686G=
NM_000027.3:c.622+143G= NP_000018.2:n.622+143G=
NM_001171988.1:c.622+143G= NP_001165459.1:n.622+143G=
NR_033655.1:n.750+143G=
XM_006714123.2:c.622+143G= XP_006714186.1:n.622+143G=
XR_001741155.2:n.716+143G=
NM_000027.4:c.622+143G= MANE Select NP_000018.2:n.622+143G=
NM_001171988.2:c.622+143G= NP_001165459.1:n.622+143G=
NR_033655.2:n.684+143G=