Canonical Allele Identifier: CA460496955
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1605128
ClinVar RCV Id: RCV002149722
dbSNP Id: rs2130613840
MyVariant Identifiers: chr8:g.38003594C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146076C>T , CM000670.2:g.38146076C>T GRCh38
NC_000008.10:g.38003594C>T , CM000670.1:g.38003594C>T GRCh37
NC_000008.9:g.38122751C>T NCBI36
NG_011827.1:g.10007G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.537G>A MANE Select ENSP00000276449.3:p.Val179=
ENST00000276449.8:c.537G>A ENSP00000276449.3:p.Val179=
ENST00000520114.1:n.1024G>A
ENST00000522050.1:c.473G>A
NM_000349.2:c.537G>A NP_000340.2:p.Val179=
XM_006716392.1:c.537G>A XP_006716455.1:p.Val179=
NM_000349.3:c.537G>A MANE Select NP_000340.2:p.Val179=
Search 100 bp 5'
Search 100 bp 3'