Canonical Allele Identifier: CA913189617

Gene: CHST3

Linked Data

• ClinVar Variation Id: 632140
• ClinVar RCV Id: RCV000779033
• dbSNP Id: rs1564532120
• gnomAD v4: 10-72007540-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007543_72007544del , CM000672.2:g.72007543_72007544del	GRCh38
NC_000010.10:g.73767301_73767302del , CM000672.1:g.73767301_73767302del	GRCh37
NC_000010.9:g.73437307_73437308del	NCBI36
NG_012635.1:g.48182_48183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.512_513del MANE Select	ENSP00000362207.4:p.Thr171SerfsTer?
ENST00000373115.4:c.512_513del	ENSP00000362207.4:p.Thr171SerfsTer?
NM_004273.4:c.512_513del	NP_004264.2:p.Thr171SerfsTer?
XM_006718075.2:c.512_513del	XP_006718138.1:p.Thr171SerfsTer?
XM_011540369.1:c.512_513del	XP_011538671.1:p.Thr171SerfsTer?
XM_006718075.4:c.512_513del	XP_006718138.1:p.Thr171SerfsTer?
XM_011540369.2:c.512_513del	XP_011538671.1:p.Thr171SerfsTer?
NM_004273.5:c.512_513del MANE Select	NP_004264.2:p.Thr171SerfsTer?