Canonical Allele Identifier: CA7481712
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs372676204
ExAC: 15:40764593 T / G
gnomAD v2: 15-40764593-T-G
gnomAD v3: 15-40472394-T-G
gnomAD v4: 15-40472394-T-G
MyVariant Identifiers: chr15:g.40764593T>G (hg19) chr15:g.40472394T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472394T>G , CM000677.2:g.40472394T>G GRCh38
NC_000015.9:g.40764593T>G , CM000677.1:g.40764593T>G GRCh37
NC_000015.8:g.38551885T>G NCBI36
NG_017074.1:g.6434T>G , LRG_600:g.6434T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*50T>G MANE Select ENSP00000307297.6:n.*50T>G
ENST00000306243.6:c.*50T>G ENSP00000307297.5:n.*50T>G
ENST00000559991.1:c.*50T>G ENSP00000453882.1:n.*50T>G
NM_130468.3:c.*50T>G , LRG_600t1:c.*50T>G NP_569735.1:n.*50T>G
NM_130468.4:c.*50T>G MANE Select NP_569735.1:n.*50T>G
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