Canonical Allele Identifier: CA358783650

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360780G>T (hg19) ; chr4:g.177439626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439626G>T , CM000666.2:g.177439626G>T	GRCh38
NC_000004.11:g.178360780G>T , CM000666.1:g.178360780G>T	GRCh37
NC_000004.10:g.178597774G>T	NCBI36
NG_011845.2:g.7878C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.344C>A MANE Select	ENSP00000264595.2:p.Ala115Glu
ENST00000264595.6:c.344C>A	ENSP00000264595.2:p.Ala115Glu
ENST00000506853.5:n.378C>A
ENST00000510635.1:c.40C>A
ENST00000510955.5:n.315+647C>A
NM_000027.3:c.344C>A	NP_000018.2:p.Ala115Glu
NM_001171988.1:c.344C>A	NP_001165459.1:p.Ala115Glu
NR_033655.1:n.472C>A
XM_006714123.2:c.344C>A	XP_006714186.1:p.Ala115Glu
XR_001741155.2:n.438C>A
NM_000027.4:c.344C>A MANE Select	NP_000018.2:p.Ala115Glu
NM_001171988.2:c.344C>A	NP_001165459.1:p.Ala115Glu
NR_033655.2:n.406C>A