Canonical Allele Identifier: CA10632089

Gene: CHST3

Linked Data

• ClinVar Variation Id: 300585
• ClinVar RCV Id: RCV000312843 ; RCV000346707 ; RCV000390324 ; RCV000395294
• dbSNP Id: rs181471425
• gnomAD v2: 10-73769084-A-C
• gnomAD v3: 10-72009326-A-C
• gnomAD v4: 10-72009326-A-C
• MyVariant Identifiers: chr10:g.73769084A>C (hg19) ; chr10:g.72009326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72009326A>C , CM000672.2:g.72009326A>C	GRCh38
NC_000010.10:g.73769084A>C , CM000672.1:g.73769084A>C	GRCh37
NC_000010.9:g.73439090A>C	NCBI36
NG_012635.1:g.49965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.*855A>C MANE Select	ENSP00000362207.4:n.*855A>C
ENST00000373115.4:c.*855A>C	ENSP00000362207.4:n.*855A>C
NM_004273.4:c.*855A>C	NP_004264.2:n.*855A>C
XM_006718075.2:c.*855A>C	XP_006718138.1:n.*855A>C
XM_011540369.1:c.*855A>C	XP_011538671.1:n.*855A>C
XM_006718075.4:c.*855A>C	XP_006718138.1:n.*855A>C
XM_011540369.2:c.*855A>C	XP_011538671.1:n.*855A>C
NM_004273.5:c.*855A>C MANE Select	NP_004264.2:n.*855A>C