Canonical Allele Identifier: CA7481696
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs752001663
ExAC: 15:40764484 G / C
gnomAD v2: 15-40764484-G-C
MyVariant Identifiers: chr15:g.40764484G>C (hg19) chr15:g.40472285G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472285G>C , CM000677.2:g.40472285G>C GRCh38
NC_000015.9:g.40764484G>C , CM000677.1:g.40764484G>C GRCh37
NC_000015.8:g.38551776G>C NCBI36
NG_017074.1:g.6325G>C , LRG_600:g.6325G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1072G>C MANE Select ENSP00000307297.6:p.Asp358His
ENST00000306243.6:c.1072G>C ENSP00000307297.5:p.Asp358His
ENST00000559991.1:c.997G>C ENSP00000453882.1:p.Asp333His
NM_130468.3:c.1072G>C , LRG_600t1:c.1072G>C NP_569735.1:p.Asp358His
NM_130468.4:c.1072G>C MANE Select NP_569735.1:p.Asp358His
Search 100 bp 5'
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