Canonical Allele Identifier: CA442332303

Gene: AGA

Linked Data

• ClinVar Variation Id: 1101589
• ClinVar RCV Id: RCV001424571
• dbSNP Id: rs2111009153
• MyVariant Identifiers: chr4:g.178355592A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434438A>G , CM000666.2:g.177434438A>G	GRCh38
NC_000004.11:g.178355592A>G , CM000666.1:g.178355592A>G	GRCh37
NC_000004.10:g.178592586A>G	NCBI36
NG_011845.2:g.13066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.750T>C MANE Select	ENSP00000264595.2:p.Thr250=
ENST00000264595.6:c.750T>C	ENSP00000264595.2:p.Thr250=
ENST00000502310.5:c.321T>C	ENSP00000423798.1:p.Thr107=
ENST00000506853.5:n.708T>C
NM_000027.3:c.750T>C	NP_000018.2:p.Thr250=
NM_001171988.1:c.720T>C	NP_001165459.1:p.Thr240=
NR_033655.1:n.802T>C
XM_006714123.2:c.*44T>C	XP_006714186.1:n.*44T>C
XR_001741155.2:n.822T>C
NM_000027.4:c.750T>C MANE Select	NP_000018.2:p.Thr250=
NM_001171988.2:c.720T>C	NP_001165459.1:p.Thr240=
NR_033655.2:n.736T>C