Canonical Allele Identifier: CA3147082

Gene: AGA

Linked Data

• ClinVar Variation Id: 1651377
• ClinVar RCV Id: RCV002151752
• dbSNP Id: rs777972773
• ExAC: 4:178363515 C / T
• gnomAD v2: 4-178363515-C-T
• gnomAD v4: 4-177442361-C-T
• MyVariant Identifiers: chr4:g.178363515C>T (hg19) ; chr4:g.177442361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442361C>T , CM000666.2:g.177442361C>T	GRCh38
NC_000004.11:g.178363515C>T , CM000666.1:g.178363515C>T	GRCh37
NC_000004.10:g.178600509C>T	NCBI36
NG_011845.2:g.5143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.15G>A MANE Select	ENSP00000264595.2:p.Ser5=
ENST00000264595.6:c.15G>A	ENSP00000264595.2:p.Ser5=
ENST00000506853.5:n.49G>A
ENST00000510955.5:n.49G>A
ENST00000511231.1:n.49G>A
NM_000027.3:c.15G>A	NP_000018.2:p.Ser5=
NM_001171988.1:c.15G>A	NP_001165459.1:p.Ser5=
NR_033655.1:n.143G>A
XM_006714123.2:c.15G>A	XP_006714186.1:p.Ser5=
XR_001741155.2:n.109G>A
NM_000027.4:c.15G>A MANE Select	NP_000018.2:p.Ser5=
NM_001171988.2:c.15G>A	NP_001165459.1:p.Ser5=
NR_033655.2:n.77G>A