Canonical Allele Identifier: CA358782311

Gene: AGA

Linked Data

• dbSNP Id: rs1736737120
• gnomAD v3: 4-177434463-C-T
• gnomAD v4: 4-177434463-C-T
• MyVariant Identifiers: chr4:g.178355617C>T (hg19) ; chr4:g.177434463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434463C>T , CM000666.2:g.177434463C>T	GRCh38
NC_000004.11:g.178355617C>T , CM000666.1:g.178355617C>T	GRCh37
NC_000004.10:g.178592611C>T	NCBI36
NG_011845.2:g.13041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.725G>A MANE Select	ENSP00000264595.2:p.Gly242Glu
ENST00000264595.6:c.725G>A	ENSP00000264595.2:p.Gly242Glu
ENST00000502310.5:c.296G>A	ENSP00000423798.1:p.Gly99Glu
ENST00000506853.5:n.683G>A
ENST00000510635.1:c.391G>A
NM_000027.3:c.725G>A	NP_000018.2:p.Gly242Glu
NM_001171988.1:c.695G>A	NP_001165459.1:p.Gly232Glu
NR_033655.1:n.777G>A
XM_006714123.2:c.*19G>A	XP_006714186.1:n.*19G>A
XR_001741155.2:n.797G>A
NM_000027.4:c.725G>A MANE Select	NP_000018.2:p.Gly242Glu
NM_001171988.2:c.695G>A	NP_001165459.1:p.Gly232Glu
NR_033655.2:n.711G>A