Canonical Allele Identifier: CA391763893
Gene: CHST14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471359T>C , CM000677.2:g.40471359T>C GRCh38
NC_000015.9:g.40763558T>C , CM000677.1:g.40763558T>C GRCh37
NC_000015.8:g.38550850T>C NCBI36
NG_017074.1:g.5399T>C , LRG_600:g.5399T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.146T>C MANE Select ENSP00000307297.6:p.Val49Ala
ENST00000306243.6:c.146T>C ENSP00000307297.5:p.Val49Ala
ENST00000559991.1:c.146T>C ENSP00000453882.1:p.Val49Ala
NM_130468.3:c.146T>C , LRG_600t1:c.146T>C NP_569735.1:p.Val49Ala
NM_130468.4:c.146T>C MANE Select NP_569735.1:p.Val49Ala