Canonical Allele Identifier: CA3146886

Gene: AGA

Linked Data

• ClinVar Variation Id: 1070108
• ClinVar RCV Id: RCV001382137
• dbSNP Id: rs370078048
• ExAC: 4:178358586 C / A
• gnomAD v2: 4-178358586-C-A
• gnomAD v4: 4-177437432-C-A
• MyVariant Identifiers: chr4:g.178358586C>A (hg19) ; chr4:g.177437432C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437432C>A , CM000666.2:g.177437432C>A	GRCh38
NC_000004.11:g.178358586C>A , CM000666.1:g.178358586C>A	GRCh37
NC_000004.10:g.178595580C>A	NCBI36
NG_011845.2:g.10072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.595G>T MANE Select	ENSP00000264595.2:p.Glu199Ter
ENST00000264595.6:c.595G>T	ENSP00000264595.2:p.Glu199Ter
ENST00000502310.5:c.250G>T	ENSP00000423798.1:p.Glu84Ter
ENST00000506853.5:n.629G>T
ENST00000510635.1:c.291G>T
ENST00000510955.5:n.516G>T
NM_000027.3:c.595G>T	NP_000018.2:p.Glu199Ter
NM_001171988.1:c.595G>T	NP_001165459.1:p.Glu199Ter
NR_033655.1:n.723G>T
XM_006714123.2:c.595G>T	XP_006714186.1:p.Glu199Ter
XR_001741155.2:n.689G>T
NM_000027.4:c.595G>T MANE Select	NP_000018.2:p.Glu199Ter
NM_001171988.2:c.595G>T	NP_001165459.1:p.Glu199Ter
NR_033655.2:n.657G>T