Canonical Allele Identifier: CA712724048
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1486004835
gnomAD v4: 15-40472532-G-T
MyVariant Identifiers: chr15:g.40764731G>T (hg19) chr15:g.40472532G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472532G>T , CM000677.2:g.40472532G>T GRCh38
NC_000015.9:g.40764731G>T , CM000677.1:g.40764731G>T GRCh37
NC_000015.8:g.38552023G>T NCBI36
NG_017074.1:g.6572G>T , LRG_600:g.6572G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*188G>T MANE Select ENSP00000307297.6:n.*188G>T
ENST00000306243.6:c.*188G>T ENSP00000307297.5:n.*188G>T
ENST00000559991.1:c.*188G>T ENSP00000453882.1:n.*188G>T
NM_130468.3:c.*188G>T , LRG_600t1:c.*188G>T NP_569735.1:n.*188G>T
NM_130468.4:c.*188G>T MANE Select NP_569735.1:n.*188G>T
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