Canonical Allele Identifier: CA391769085
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472324-A-G
MyVariant Identifiers: chr15:g.40764523A>G (hg19) chr15:g.40472324A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472324A>G , CM000677.2:g.40472324A>G GRCh38
NC_000015.9:g.40764523A>G , CM000677.1:g.40764523A>G GRCh37
NC_000015.8:g.38551815A>G NCBI36
NG_017074.1:g.6364A>G , LRG_600:g.6364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1111A>G MANE Select ENSP00000307297.6:p.Lys371Glu
ENST00000306243.6:c.1111A>G ENSP00000307297.5:p.Lys371Glu
ENST00000559991.1:c.1036A>G ENSP00000453882.1:p.Lys346Glu
NM_130468.3:c.1111A>G , LRG_600t1:c.1111A>G NP_569735.1:p.Lys371Glu
NM_130468.4:c.1111A>G MANE Select NP_569735.1:p.Lys371Glu
Search 100 bp 5'
Search 100 bp 3'