Canonical Allele Identifier: CA2672746371

Gene: AGA

Linked Data

• gnomAD v4: 4-177434354-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434355dup , CM000666.2:g.177434355dup	GRCh38
NC_000004.11:g.178355509dup , CM000666.1:g.178355509dup	GRCh37
NC_000004.10:g.178592503dup	NCBI36
NG_011845.2:g.13149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+27dup MANE Select	ENSP00000264595.2:n.806+27dup
ENST00000264595.6:c.806+27dup	ENSP00000264595.2:n.806+27dup
ENST00000502310.5:c.377+27dup	ENSP00000423798.1:n.377+27dup
NM_000027.3:c.806+27dup	NP_000018.2:n.806+27dup
NM_001171988.1:c.776+27dup	NP_001165459.1:n.776+27dup
NR_033655.1:n.858+27dup
XR_001741155.2:n.878+27dup
NM_000027.4:c.806+27dup MANE Select	NP_000018.2:n.806+27dup
NM_001171988.2:c.776+27dup	NP_001165459.1:n.776+27dup
NR_033655.2:n.792+27dup