Canonical Allele Identifier: CA358784992

Gene: AGA

Linked Data

• ClinVar Variation Id: 590810
• ClinVar RCV Id: RCV000721973
• dbSNP Id: rs1560952256
• MyVariant Identifiers: chr4:g.178363409C>A (hg19) ; chr4:g.177442255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442255C>A , CM000666.2:g.177442255C>A	GRCh38
NC_000004.11:g.178363409C>A , CM000666.1:g.178363409C>A	GRCh37
NC_000004.10:g.178600403C>A	NCBI36
NG_011845.2:g.5249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.121G>T MANE Select	ENSP00000264595.2:p.Glu41Ter
ENST00000264595.6:c.121G>T	ENSP00000264595.2:p.Glu41Ter
ENST00000506853.5:n.155G>T
ENST00000510955.5:n.155G>T
ENST00000511231.1:n.155G>T
NM_000027.3:c.121G>T	NP_000018.2:p.Glu41Ter
NM_001171988.1:c.121G>T	NP_001165459.1:p.Glu41Ter
NR_033655.1:n.249G>T
XM_006714123.2:c.121G>T	XP_006714186.1:p.Glu41Ter
XR_001741155.2:n.215G>T
NM_000027.4:c.121G>T MANE Select	NP_000018.2:p.Glu41Ter
NM_001171988.2:c.121G>T	NP_001165459.1:p.Glu41Ter
NR_033655.2:n.183G>T