Canonical Allele Identifier: CA5548127

Gene: CHST3

Linked Data

• ClinVar Variation Id: 286649
• ClinVar RCV Id: RCV000264582 ; RCV000281507 ; RCV000285022 ; RCV000338929 ; RCV000397454 ; RCV002288964
• dbSNP Id: rs147804585
• ExAC: 10:73767350 G / C
• gnomAD v2: 10-73767350-G-C
• gnomAD v3: 10-72007592-G-C
• gnomAD v4: 10-72007592-G-C
• MyVariant Identifiers: chr10:g.73767350G>C (hg19) ; chr10:g.72007592G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007592G>C , CM000672.2:g.72007592G>C	GRCh38
NC_000010.10:g.73767350G>C , CM000672.1:g.73767350G>C	GRCh37
NC_000010.9:g.73437356G>C	NCBI36
NG_012635.1:g.48231G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.561G>C MANE Select	ENSP00000362207.4:p.Val187=
ENST00000373115.4:c.561G>C	ENSP00000362207.4:p.Val187=
NM_004273.4:c.561G>C	NP_004264.2:p.Val187=
XM_006718075.2:c.561G>C	XP_006718138.1:p.Val187=
XM_011540369.1:c.561G>C	XP_011538671.1:p.Val187=
XM_006718075.4:c.561G>C	XP_006718138.1:p.Val187=
XM_011540369.2:c.561G>C	XP_011538671.1:p.Val187=
NM_004273.5:c.561G>C MANE Select	NP_004264.2:p.Val187=