Canonical Allele Identifier: CA120043
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 8996
dbSNP Id: rs104894089

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146054C>T , CM000670.2:g.38146054C>T GRCh38
NC_000008.10:g.38003572C>T , CM000670.1:g.38003572C>T GRCh37
NC_000008.9:g.38122729C>T NCBI36
NG_011827.1:g.10029G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.559G>A MANE Select ENSP00000276449.3:p.Val187Met
ENST00000276449.8:c.559G>A ENSP00000276449.3:p.Val187Met
ENST00000520114.1:n.1046G>A
ENST00000522050.1:n.495G>A
NM_000349.2:c.559G>A NP_000340.2:p.Val187Met
XM_006716392.1:c.559G>A XP_006716455.1:p.Val187Met
NM_000349.3:c.559G>A MANE Select NP_000340.2:p.Val187Met