Canonical Allele Identifier: CA442332296

Gene: AGA

Linked Data

• ClinVar Variation Id: 2763086
• ClinVar RCV Id: RCV003496048
• MyVariant Identifiers: chr4:g.178355586C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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