Canonical Allele Identifier: CA377146160

Gene: CHST3

Linked Data

• dbSNP Id: rs1400643390
• gnomAD v2: 10-73767505-A-G
• gnomAD v4: 10-72007747-A-G
• MyVariant Identifiers: chr10:g.73767505A>G (hg19) ; chr10:g.72007747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007747A>G , CM000672.2:g.72007747A>G	GRCh38
NC_000010.10:g.73767505A>G , CM000672.1:g.73767505A>G	GRCh37
NC_000010.9:g.73437511A>G	NCBI36
NG_012635.1:g.48386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.716A>G MANE Select	ENSP00000362207.4:p.Lys239Arg
ENST00000373115.4:c.716A>G	ENSP00000362207.4:p.Lys239Arg
NM_004273.4:c.716A>G	NP_004264.2:p.Lys239Arg
XM_006718075.2:c.716A>G	XP_006718138.1:p.Lys239Arg
XM_011540369.1:c.716A>G	XP_011538671.1:p.Lys239Arg
XM_006718075.4:c.716A>G	XP_006718138.1:p.Lys239Arg
XM_011540369.2:c.716A>G	XP_011538671.1:p.Lys239Arg
NM_004273.5:c.716A>G MANE Select	NP_004264.2:p.Lys239Arg