Canonical Allele Identifier: CA377144760

Gene: CHST3

Linked Data

• dbSNP Id: rs1840055587
• gnomAD v4: 10-72007597-G-T
• MyVariant Identifiers: chr10:g.73767355G>T (hg19) ; chr10:g.72007597G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007597G>T , CM000672.2:g.72007597G>T	GRCh38
NC_000010.10:g.73767355G>T , CM000672.1:g.73767355G>T	GRCh37
NC_000010.9:g.73437361G>T	NCBI36
NG_012635.1:g.48236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.566G>T MANE Select	ENSP00000362207.4:p.Arg189Leu
ENST00000373115.4:c.566G>T	ENSP00000362207.4:p.Arg189Leu
NM_004273.4:c.566G>T	NP_004264.2:p.Arg189Leu
XM_006718075.2:c.566G>T	XP_006718138.1:p.Arg189Leu
XM_011540369.1:c.566G>T	XP_011538671.1:p.Arg189Leu
XM_006718075.4:c.566G>T	XP_006718138.1:p.Arg189Leu
XM_011540369.2:c.566G>T	XP_011538671.1:p.Arg189Leu
NM_004273.5:c.566G>T MANE Select	NP_004264.2:p.Arg189Leu