Canonical Allele Identifier: CA391762098
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1321331803
gnomAD v4: 15-40471290-C-G
MyVariant Identifiers: chr15:g.40763489C>G (hg19) chr15:g.40471290C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471290C>G , CM000677.2:g.40471290C>G GRCh38
NC_000015.9:g.40763489C>G , CM000677.1:g.40763489C>G GRCh37
NC_000015.8:g.38550781C>G NCBI36
NG_017074.1:g.5330C>G , LRG_600:g.5330C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.77C>G MANE Select ENSP00000307297.6:p.Pro26Arg
ENST00000306243.6:c.77C>G ENSP00000307297.5:p.Pro26Arg
ENST00000559991.1:c.77C>G ENSP00000453882.1:p.Pro26Arg
NM_130468.3:c.77C>G , LRG_600t1:c.77C>G NP_569735.1:p.Pro26Arg
NM_130468.4:c.77C>G MANE Select NP_569735.1:p.Pro26Arg
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