Canonical Allele Identifier: CA185895
Gene: HS6ST1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.128268254G>A
GRCh37 chr2:g.129025828G>A
Revel Score:
ENST00000259241 (MANE Select) 0.634
gnomAD v2:
2:129025828 G / A
gnomAD v3:
2:128268254 G / A
gnomAD v4:
chr2-128268254-G-A
Joint Max Group AF 0.01124921 (SAS)
Genomes Max Group AF 0.00974227 (SAS)
Exomes Max Group AF 0.01121099 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.128268254G>A , CM000664.2:g.128268254G>A GRCh38
NC_000002.11:g.129025828G>A , CM000664.1:g.129025828G>A GRCh37
NC_000002.10:g.128742298G>A NCBI36
NG_032966.1:g.55344C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259241.7:c.1144C>T MANE Select ENSP00000259241.6:p.Arg382Trp
ENST00000259241.6:c.1144C>T ENSP00000259241.6:p.Arg382Trp
ENST00000469019.1:n.361-21729C>T
NM_004807.2:c.1144C>T NP_004798.3:p.Arg382Trp
NM_004807.3:c.1144C>T MANE Select NP_004798.3:p.Arg382Trp
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