Canonical Allele Identifier: CA391764095
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1894343005
gnomAD v4: 15-40471390-G-T
MyVariant Identifiers: chr15:g.40763589G>T (hg19) chr15:g.40471390G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471390G>T , CM000677.2:g.40471390G>T GRCh38
NC_000015.9:g.40763589G>T , CM000677.1:g.40763589G>T GRCh37
NC_000015.8:g.38550881G>T NCBI36
NG_017074.1:g.5430G>T , LRG_600:g.5430G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.177G>T MANE Select ENSP00000307297.6:p.Met59Ile
ENST00000306243.6:c.177G>T ENSP00000307297.5:p.Met59Ile
ENST00000559991.1:c.177G>T ENSP00000453882.1:p.Met59Ile
NM_130468.3:c.177G>T , LRG_600t1:c.177G>T NP_569735.1:p.Met59Ile
NM_130468.4:c.177G>T MANE Select NP_569735.1:p.Met59Ile
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