Canonical Allele Identifier: CA10635843

Gene: CHST3

Linked Data

• ClinVar Variation Id: 300673
• ClinVar RCV Id: RCV000284202 ; RCV000339345 ; RCV000403979 ; RCV000406271
• dbSNP Id: rs730721
• gnomAD v2: 10-73772724-G-A
• gnomAD v3: 10-72012966-G-A
• gnomAD v4: 10-72012966-G-A
• MyVariant Identifiers: chr10:g.73772724G>A (hg19) ; chr10:g.72012966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72012966G>A , CM000672.2:g.72012966G>A	GRCh38
NC_000010.10:g.73772724G>A , CM000672.1:g.73772724G>A	GRCh37
NC_000010.9:g.73442730G>A	NCBI36
NG_012635.1:g.53605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.*4495G>A MANE Select	ENSP00000362207.4:n.*4495G>A
ENST00000373115.4:c.*4495G>A	ENSP00000362207.4:n.*4495G>A
NM_004273.4:c.*4495G>A	NP_004264.2:n.*4495G>A
XM_006718075.2:c.*4495G>A	XP_006718138.1:n.*4495G>A
XM_011540369.1:c.*4495G>A	XP_011538671.1:n.*4495G>A
XM_006718075.4:c.*4495G>A	XP_006718138.1:n.*4495G>A
XM_011540369.2:c.*4495G>A	XP_011538671.1:n.*4495G>A
NM_004273.5:c.*4495G>A MANE Select	NP_004264.2:n.*4495G>A