Canonical Allele Identifier: CA556483820

Gene: AGA

Linked Data

• dbSNP Id: rs1332232966
• gnomAD v2: 4-178358602-A-AG
• gnomAD v4: 4-177437448-A-AG
• MyVariant Identifiers: chr4:g.178358602_178358603insG (hg19) ; chr4:g.177437448_177437449insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437450dup , CM000666.2:g.177437450dup	GRCh38
NC_000004.11:g.178358604dup , CM000666.1:g.178358604dup	GRCh37
NC_000004.10:g.178595598dup	NCBI36
NG_011845.2:g.10055dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.578dup MANE Select	ENSP00000264595.2:p.Ile194TyrfsTer3
ENST00000264595.6:c.578dup	ENSP00000264595.2:p.Ile194TyrfsTer3
ENST00000502310.5:c.233dup	ENSP00000423798.1:p.Ile79TyrfsTer3
ENST00000506853.5:n.612dup
ENST00000510635.1:c.274dup
ENST00000510955.5:n.499dup
NM_000027.3:c.578dup	NP_000018.2:p.Ile194TyrfsTer3
NM_001171988.1:c.578dup	NP_001165459.1:p.Ile194TyrfsTer3
NR_033655.1:n.706dup
XM_006714123.2:c.578dup	XP_006714186.1:p.Ile194TyrfsTer3
XR_001741155.2:n.672dup
NM_000027.4:c.578dup MANE Select	NP_000018.2:p.Ile194TyrfsTer3
NM_001171988.2:c.578dup	NP_001165459.1:p.Ile194TyrfsTer3
NR_033655.2:n.640dup