Canonical Allele Identifier: CA1071329913

Gene: AGA

Linked Data

• dbSNP Id: rs1736867910
• gnomAD v3: 4-177437612-C-CA
• gnomAD v4: 4-177437612-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437619dup , CM000666.2:g.177437619dup	GRCh38
NC_000004.11:g.178358773dup , CM000666.1:g.178358773dup	GRCh37
NC_000004.10:g.178595767dup	NCBI36
NG_011845.2:g.9891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-94dup MANE Select	ENSP00000264595.2:n.508-94dup
ENST00000264595.6:c.508-94dup	ENSP00000264595.2:n.508-94dup
ENST00000502310.5:c.163-94dup	ENSP00000423798.1:n.163-94dup
ENST00000506853.5:n.542-94dup
ENST00000510635.1:c.204-94dup
ENST00000510955.5:n.429-94dup
NM_000027.3:c.508-94dup	NP_000018.2:n.508-94dup
NM_001171988.1:c.508-94dup	NP_001165459.1:n.508-94dup
NR_033655.1:n.636-94dup
XM_006714123.2:c.508-94dup	XP_006714186.1:n.508-94dup
XR_001741155.2:n.602-94dup
NM_000027.4:c.508-94dup MANE Select	NP_000018.2:n.508-94dup
NM_001171988.2:c.508-94dup	NP_001165459.1:n.508-94dup
NR_033655.2:n.570-94dup