Canonical Allele Identifier: CA391768974

Gene: CHST14

Linked Data

• MyVariant Identifiers: chr15:g.40764497T>G (hg19) ; chr15:g.40472298T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472298T>G , CM000677.2:g.40472298T>G	GRCh38
NC_000015.9:g.40764497T>G , CM000677.1:g.40764497T>G	GRCh37
NC_000015.8:g.38551789T>G	NCBI36
NG_017074.1:g.6338T>G , LRG_600:g.6338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.1085T>G MANE Select	ENSP00000307297.6:p.Phe362Cys
ENST00000306243.6:c.1085T>G	ENSP00000307297.5:p.Phe362Cys
ENST00000559991.1:c.1010T>G	ENSP00000453882.1:p.Phe337Cys
NM_130468.3:c.1085T>G , LRG_600t1:c.1085T>G	NP_569735.1:p.Phe362Cys
NM_130468.4:c.1085T>G MANE Select	NP_569735.1:p.Phe362Cys