Canonical Allele Identifier: CA358784390

Gene: AGA

Linked Data

• ClinVar Variation Id: 1341346
• ClinVar RCV Id: RCV001829272
• dbSNP Id: rs1560950756
• MyVariant Identifiers: chr4:g.178361506G>A (hg19) ; chr4:g.177440352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440352G>A , CM000666.2:g.177440352G>A	GRCh38
NC_000004.11:g.178361506G>A , CM000666.1:g.178361506G>A	GRCh37
NC_000004.10:g.178598500G>A	NCBI36
NG_011845.2:g.7152C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.202C>T MANE Select	ENSP00000264595.2:p.Gln68Ter
ENST00000264595.6:c.202C>T	ENSP00000264595.2:p.Gln68Ter
ENST00000506853.5:n.236C>T
ENST00000510955.5:n.236C>T
ENST00000511231.1:n.236C>T
NM_000027.3:c.202C>T	NP_000018.2:p.Gln68Ter
NM_001171988.1:c.202C>T	NP_001165459.1:p.Gln68Ter
NR_033655.1:n.330C>T
XM_006714123.2:c.202C>T	XP_006714186.1:p.Gln68Ter
XR_001741155.2:n.296C>T
NM_000027.4:c.202C>T MANE Select	NP_000018.2:p.Gln68Ter
NM_001171988.2:c.202C>T	NP_001165459.1:p.Gln68Ter
NR_033655.2:n.264C>T