Canonical Allele Identifier: CA3278285

Gene: ZSWIM6

Linked Data

• ClinVar Variation Id: 1667535
• ClinVar RCV Id: RCV002195783
• dbSNP Id: rs748105401
• ExAC: 5:60628387 G / A
• gnomAD v2: 5-60628387-G-A
• gnomAD v3: 5-61332560-G-A
• gnomAD v4: 5-61332560-G-A
• MyVariant Identifiers: chr5:g.60628387G>A (hg19) ; chr5:g.61332560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.61332560G>A , CM000667.2:g.61332560G>A	GRCh38
NC_000005.9:g.60628387G>A , CM000667.1:g.60628387G>A	GRCh37
NC_000005.8:g.60664144G>A	NCBI36
NG_053150.1:g.5288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252744.6:c.288G>A MANE Select	ENSP00000252744.5:p.Glu96=
ENST00000252744.5:c.288G>A	ENSP00000252744.5:p.Glu96=
NM_020928.1:c.288G>A	NP_065979.1:p.Glu96=
NM_020928.2:c.288G>A MANE Select	NP_065979.1:p.Glu96=