Canonical Allele Identifier: CA15154683
Gene: HS6ST1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.128266739A>G
GRCh37 chr2:g.129024313A>G
gnomAD v2:
2:129024313 A / G
gnomAD v3:
2:128266739 A / G
gnomAD v4:
chr2-128266739-A-G
Joint Max Group AF 0.70043243 (AFR)
Genomes Max Group AF 0.70043243 (AFR)
Exomes Max Group AF 0.08093441 (NFE)
dbSNP:
2290113
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.128266739A>G , CM000664.2:g.128266739A>G GRCh38
NC_000002.11:g.129024313A>G , CM000664.1:g.129024313A>G GRCh37
NC_000002.10:g.128740783A>G NCBI36
NG_032966.1:g.56859T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259241.7:c.*1423T>C MANE Select ENSP00000259241.6:n.*1423T>C
ENST00000259241.6:c.*1423T>C ENSP00000259241.6:n.*1423T>C
ENST00000469019.1:n.361-20214T>C
NM_004807.2:c.*1423T>C NP_004798.3:n.*1423T>C
NM_004807.3:c.*1423T>C MANE Select NP_004798.3:n.*1423T>C
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