Canonical Allele Identifier: CA10628957

Gene: CHST3

Linked Data

• ClinVar Variation Id: 300656
• ClinVar RCV Id: RCV000280333 ; RCV000293202 ; RCV000320072 ; RCV000374838
• dbSNP Id: rs537395654
• gnomAD v2: 10-73772086-G-A
• gnomAD v3: 10-72012328-G-A
• gnomAD v4: 10-72012328-G-A
• MyVariant Identifiers: chr10:g.73772086G>A (hg19) ; chr10:g.72012328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72012328G>A , CM000672.2:g.72012328G>A	GRCh38
NC_000010.10:g.73772086G>A , CM000672.1:g.73772086G>A	GRCh37
NC_000010.9:g.73442092G>A	NCBI36
NG_012635.1:g.52967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.*3857G>A MANE Select	ENSP00000362207.4:n.*3857G>A
ENST00000373115.4:c.*3857G>A	ENSP00000362207.4:n.*3857G>A
NM_004273.4:c.*3857G>A	NP_004264.2:n.*3857G>A
XM_006718075.2:c.*3857G>A	XP_006718138.1:n.*3857G>A
XM_011540369.1:c.*3857G>A	XP_011538671.1:n.*3857G>A
XM_006718075.4:c.*3857G>A	XP_006718138.1:n.*3857G>A
XM_011540369.2:c.*3857G>A	XP_011538671.1:n.*3857G>A
NM_004273.5:c.*3857G>A MANE Select	NP_004264.2:n.*3857G>A