Canonical Allele Identifier: CA391769149
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1373673077
gnomAD v2: 15-40764533-G-A
MyVariant Identifiers: chr15:g.40764533G>A (hg19) chr15:g.40472334G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472334G>A , CM000677.2:g.40472334G>A GRCh38
NC_000015.9:g.40764533G>A , CM000677.1:g.40764533G>A GRCh37
NC_000015.8:g.38551825G>A NCBI36
NG_017074.1:g.6374G>A , LRG_600:g.6374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1121G>A MANE Select ENSP00000307297.6:p.Cys374Tyr
ENST00000306243.6:c.1121G>A ENSP00000307297.5:p.Cys374Tyr
ENST00000559991.1:c.1046G>A ENSP00000453882.1:p.Cys349Tyr
NM_130468.3:c.1121G>A , LRG_600t1:c.1121G>A NP_569735.1:p.Cys374Tyr
NM_130468.4:c.1121G>A MANE Select NP_569735.1:p.Cys374Tyr
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