Canonical Allele Identifier: CA1515644648

Gene: AGA

Linked Data

• dbSNP Id: rs1736926407

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439589dup , CM000666.2:g.177439589dup	GRCh38
NC_000004.11:g.178360743dup , CM000666.1:g.178360743dup	GRCh37
NC_000004.10:g.178597737dup	NCBI36
NG_011845.2:g.7915dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.381dup MANE Select	ENSP00000264595.2:p.Val128SerfsTer17
ENST00000264595.6:c.381dup	ENSP00000264595.2:p.Val128SerfsTer17
ENST00000502310.5:c.36dup	ENSP00000423798.1:p.Val13SerfsTer17
ENST00000506853.5:n.415dup
ENST00000510635.1:c.77dup
ENST00000510955.5:n.315+684dup
NM_000027.3:c.381dup	NP_000018.2:p.Val128SerfsTer17
NM_001171988.1:c.381dup	NP_001165459.1:p.Val128SerfsTer17
NR_033655.1:n.509dup
XM_006714123.2:c.381dup	XP_006714186.1:p.Val128SerfsTer17
XR_001741155.2:n.475dup
NM_000027.4:c.381dup MANE Select	NP_000018.2:p.Val128SerfsTer17
NM_001171988.2:c.381dup	NP_001165459.1:p.Val128SerfsTer17
NR_033655.2:n.443dup