Canonical Allele Identifier: CA5548106

Gene: CHST3

Linked Data

• dbSNP Id: rs370284531
• ExAC: 10:73767293 C / T
• gnomAD v2: 10-73767293-C-T
• gnomAD v3: 10-72007535-C-T
• gnomAD v4: 10-72007535-C-T
• MyVariant Identifiers: chr10:g.73767293C>T (hg19) ; chr10:g.72007535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007535C>T , CM000672.2:g.72007535C>T	GRCh38
NC_000010.10:g.73767293C>T , CM000672.1:g.73767293C>T	GRCh37
NC_000010.9:g.73437299C>T	NCBI36
NG_012635.1:g.48174C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373115.5:c.504C>T MANE Select	ENSP00000362207.4:p.Ile168=
ENST00000373115.4:c.504C>T	ENSP00000362207.4:p.Ile168=
NM_004273.4:c.504C>T	NP_004264.2:p.Ile168=
XM_006718075.2:c.504C>T	XP_006718138.1:p.Ile168=
XM_011540369.1:c.504C>T	XP_011538671.1:p.Ile168=
XM_006718075.4:c.504C>T	XP_006718138.1:p.Ile168=
XM_011540369.2:c.504C>T	XP_011538671.1:p.Ile168=
NM_004273.5:c.504C>T MANE Select	NP_004264.2:p.Ile168=