Canonical Allele Identifier: CA442332298

Gene: AGA

Linked Data

• ClinVar Variation Id: 1592744
• ClinVar RCV Id: RCV002122320
• dbSNP Id: rs2111009133
• MyVariant Identifiers: chr4:g.178355586C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434432C>T , CM000666.2:g.177434432C>T	GRCh38
NC_000004.11:g.178355586C>T , CM000666.1:g.178355586C>T	GRCh37
NC_000004.10:g.178592580C>T	NCBI36
NG_011845.2:g.13072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.756G>A MANE Select	ENSP00000264595.2:p.Gly252=
ENST00000264595.6:c.756G>A	ENSP00000264595.2:p.Gly252=
ENST00000502310.5:c.327G>A	ENSP00000423798.1:p.Gly109=
ENST00000506853.5:n.714G>A
NM_000027.3:c.756G>A	NP_000018.2:p.Gly252=
NM_001171988.1:c.726G>A	NP_001165459.1:p.Gly242=
NR_033655.1:n.808G>A
XM_006714123.2:c.*50G>A	XP_006714186.1:n.*50G>A
XR_001741155.2:n.828G>A
NM_000027.4:c.756G>A MANE Select	NP_000018.2:p.Gly252=
NM_001171988.2:c.726G>A	NP_001165459.1:p.Gly242=
NR_033655.2:n.742G>A