Canonical Allele Identifier: CA5548180

Gene: CHST3

Linked Data

• ClinVar Variation Id: 300563
• ClinVar RCV Id: RCV000261306 ; RCV000301330 ; RCV000356106 ; RCV000393600
• dbSNP Id: rs140547825
• ExAC: 10:73767617 C / T
• gnomAD v2: 10-73767617-C-T
• gnomAD v3: 10-72007859-C-T
• gnomAD v4: 10-72007859-C-T
• MyVariant Identifiers: chr10:g.73767617C>T (hg19) ; chr10:g.72007859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007859C>T , CM000672.2:g.72007859C>T	GRCh38
NC_000010.10:g.73767617C>T , CM000672.1:g.73767617C>T	GRCh37
NC_000010.9:g.73437623C>T	NCBI36
NG_012635.1:g.48498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.828C>T MANE Select	ENSP00000362207.4:p.Arg276=
ENST00000373115.4:c.828C>T	ENSP00000362207.4:p.Arg276=
NM_004273.4:c.828C>T	NP_004264.2:p.Arg276=
XM_006718075.2:c.828C>T	XP_006718138.1:p.Arg276=
XM_011540369.1:c.828C>T	XP_011538671.1:p.Arg276=
XM_006718075.4:c.828C>T	XP_006718138.1:p.Arg276=
XM_011540369.2:c.828C>T	XP_011538671.1:p.Arg276=
NM_004273.5:c.828C>T MANE Select	NP_004264.2:p.Arg276=