Canonical Allele Identifier: CA1515637440
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434379T= , CM000666.2:g.177434379T= GRCh38
NC_000004.11:g.178355533T= , CM000666.1:g.178355533T= GRCh37
NC_000004.10:g.178592527T= NCBI36
NG_011845.2:g.13125A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.806+3A= MANE Select ENSP00000264595.2:n.806+3A=
ENST00000264595.6:c.806+3A= ENSP00000264595.2:n.806+3A=
ENST00000502310.5:c.377+3A= ENSP00000423798.1:n.377+3A=
NM_000027.3:c.806+3A= NP_000018.2:n.806+3A=
NM_001171988.1:c.776+3A= NP_001165459.1:n.776+3A=
NR_033655.1:n.858+3A=
XR_001741155.2:n.878+3A=
NM_000027.4:c.806+3A= MANE Select NP_000018.2:n.806+3A=
NM_001171988.2:c.776+3A= NP_001165459.1:n.776+3A=
NR_033655.2:n.792+3A=