Canonical Allele Identifier: CA370696746
Gene: STAR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145239G>C , CM000670.2:g.38145239G>C GRCh38
NC_000008.10:g.38002757G>C , CM000670.1:g.38002757G>C GRCh37
NC_000008.9:g.38121914G>C NCBI36
NG_011827.1:g.10844C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.727C>G MANE Select ENSP00000276449.3:p.Leu243Val
ENST00000276449.8:c.727C>G ENSP00000276449.3:p.Leu243Val
ENST00000520114.1:n.1861C>G
ENST00000522050.1:c.586+724C>G
NM_000349.2:c.727C>G NP_000340.2:p.Leu243Val
XM_006716392.1:c.650+724C>G XP_006716455.1:n.650+724C>G
NM_000349.3:c.727C>G MANE Select NP_000340.2:p.Leu243Val