Canonical Allele Identifier: CA5548132
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2153996
ClinVar RCV Id: RCV003081565
dbSNP Id: rs149671252
ExAC: 10:73767386 C / A
gnomAD v2: 10-73767386-C-A
gnomAD v3: 10-72007628-C-A
gnomAD v4: 10-72007628-C-A
MyVariant Identifiers: chr10:g.73767386C>A (hg19) chr10:g.72007628C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007628C>A , CM000672.2:g.72007628C>A GRCh38
NC_000010.10:g.73767386C>A , CM000672.1:g.73767386C>A GRCh37
NC_000010.9:g.73437392C>A NCBI36
NG_012635.1:g.48267C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.597C>A MANE Select ENSP00000362207.4:p.Asp199Glu
ENST00000373115.4:c.597C>A ENSP00000362207.4:p.Asp199Glu
NM_004273.4:c.597C>A NP_004264.2:p.Asp199Glu
XM_006718075.2:c.597C>A XP_006718138.1:p.Asp199Glu
XM_011540369.1:c.597C>A XP_011538671.1:p.Asp199Glu
XM_006718075.4:c.597C>A XP_006718138.1:p.Asp199Glu
XM_011540369.2:c.597C>A XP_011538671.1:p.Asp199Glu
NM_004273.5:c.597C>A MANE Select NP_004264.2:p.Asp199Glu
Search 100 bp 5'
Search 100 bp 3'