Canonical Allele Identifier: CA489975461
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472269-G-C
MyVariant Identifiers: chr15:g.40764468G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472269G>C , CM000677.2:g.40472269G>C GRCh38
NC_000015.9:g.40764468G>C , CM000677.1:g.40764468G>C GRCh37
NC_000015.8:g.38551760G>C NCBI36
NG_017074.1:g.6309G>C , LRG_600:g.6309G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1056G>C MANE Select ENSP00000307297.6:p.Leu352=
ENST00000306243.6:c.1056G>C ENSP00000307297.5:p.Leu352=
ENST00000559991.1:c.981G>C ENSP00000453882.1:p.Leu327=
NM_130468.3:c.1056G>C , LRG_600t1:c.1056G>C NP_569735.1:p.Leu352=
NM_130468.4:c.1056G>C MANE Select NP_569735.1:p.Leu352=
Search 100 bp 5'
Search 100 bp 3'