Canonical Allele Identifier: CA391768918

Gene: CHST14

Linked Data

• MyVariant Identifiers: chr15:g.40764484G>T (hg19) ; chr15:g.40472285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472285G>T , CM000677.2:g.40472285G>T	GRCh38
NC_000015.9:g.40764484G>T , CM000677.1:g.40764484G>T	GRCh37
NC_000015.8:g.38551776G>T	NCBI36
NG_017074.1:g.6325G>T , LRG_600:g.6325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.1072G>T MANE Select	ENSP00000307297.6:p.Asp358Tyr
ENST00000306243.6:c.1072G>T	ENSP00000307297.5:p.Asp358Tyr
ENST00000559991.1:c.997G>T	ENSP00000453882.1:p.Asp333Tyr
NM_130468.3:c.1072G>T , LRG_600t1:c.1072G>T	NP_569735.1:p.Asp358Tyr
NM_130468.4:c.1072G>T MANE Select	NP_569735.1:p.Asp358Tyr