Canonical Allele Identifier: CA8175741
Gene: CHST5 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.75529652C>T
GRCh37 chr16:g.75563550C>T
Revel Score:
ENST00000336257 (MANE Select) 0.356
ENST00000541075 0.356
gnomAD v2:
16:75563550 C / T
gnomAD v3:
16:75529652 C / T
gnomAD v4:
chr16-75529652-C-T
Joint Max Group AF 0.00002829 (NFE)
Exomes Max Group AF 0.00002917 (NFE)
ClinVar RCV:
RCV004074366
ClinVar Variation:
2207736
dbSNP:
141105291
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75529652C>T , CM000678.2:g.75529652C>T GRCh38
NC_000016.9:g.75563550C>T , CM000678.1:g.75563550C>T GRCh37
NC_000016.8:g.74121051C>T NCBI36
NG_029853.1:g.10519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336257.8:c.733G>A MANE Select ENSP00000338783.3:p.Gly245Ser
ENST00000336257.7:c.733G>A ENSP00000338783.3:p.Gly245Ser
ENST00000460606.1:c.1005G>A
NM_024533.4:c.733G>A NP_078809.2:p.Gly245Ser
NM_024533.5:c.733G>A MANE Select NP_078809.2:p.Gly245Ser
Search 100 bp 5'
Search 100 bp 3'