Canonical Allele Identifier: CA391768934

Gene: CHST14

Linked Data

• MyVariant Identifiers: chr15:g.40764487T>G (hg19) ; chr15:g.40472288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472288T>G , CM000677.2:g.40472288T>G	GRCh38
NC_000015.9:g.40764487T>G , CM000677.1:g.40764487T>G	GRCh37
NC_000015.8:g.38551779T>G	NCBI36
NG_017074.1:g.6328T>G , LRG_600:g.6328T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.1075T>G MANE Select	ENSP00000307297.6:p.Phe359Val
ENST00000306243.6:c.1075T>G	ENSP00000307297.5:p.Phe359Val
ENST00000559991.1:c.1000T>G	ENSP00000453882.1:p.Phe334Val
NM_130468.3:c.1075T>G , LRG_600t1:c.1075T>G	NP_569735.1:p.Phe359Val
NM_130468.4:c.1075T>G MANE Select	NP_569735.1:p.Phe359Val