Canonical Allele Identifier: CA202347

Gene: CHST3

Linked Data

• ClinVar Variation Id: 196378
• ClinVar RCV Id: RCV000177194 ; RCV000274026 ; RCV000327879 ; RCV000331444 ; RCV000366162
• dbSNP Id: rs144287889
• ExAC: 10:73767206 C / T
• gnomAD v2: 10-73767206-C-T
• gnomAD v3: 10-72007448-C-T
• gnomAD v4: 10-72007448-C-T
• MyVariant Identifiers: chr10:g.73767206C>T (hg19) ; chr10:g.72007448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007448C>T , CM000672.2:g.72007448C>T	GRCh38
NC_000010.10:g.73767206C>T , CM000672.1:g.73767206C>T	GRCh37
NC_000010.9:g.73437212C>T	NCBI36
NG_012635.1:g.48087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.417C>T MANE Select	ENSP00000362207.4:p.Ala139=
ENST00000373115.4:c.417C>T	ENSP00000362207.4:p.Ala139=
NM_004273.4:c.417C>T	NP_004264.2:p.Ala139=
XM_006718075.2:c.417C>T	XP_006718138.1:p.Ala139=
XM_011540369.1:c.417C>T	XP_011538671.1:p.Ala139=
XM_006718075.4:c.417C>T	XP_006718138.1:p.Ala139=
XM_011540369.2:c.417C>T	XP_011538671.1:p.Ala139=
NM_004273.5:c.417C>T MANE Select	NP_004264.2:p.Ala139=