Canonical Allele Identifier: CA460496879
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2740486
ClinVar RCV Id: RCV003575765
dbSNP Id: rs1400691038
gnomAD v2: 8-38003534-C-T
gnomAD v4: 8-38146016-C-T
MyVariant Identifiers: chr8:g.38003534C>T (hg19) chr8:g.38146016C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146016C>T , CM000670.2:g.38146016C>T GRCh38
NC_000008.10:g.38003534C>T , CM000670.1:g.38003534C>T GRCh37
NC_000008.9:g.38122691C>T NCBI36
NG_011827.1:g.10067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.597G>A MANE Select ENSP00000276449.3:p.Leu199=
ENST00000276449.8:c.597G>A ENSP00000276449.3:p.Leu199=
ENST00000520114.1:n.1084G>A
ENST00000522050.1:c.533G>A
NM_000349.2:c.597G>A NP_000340.2:p.Leu199=
XM_006716392.1:c.597G>A XP_006716455.1:p.Leu199=
NM_000349.3:c.597G>A MANE Select NP_000340.2:p.Leu199=
Search 100 bp 5'
Search 100 bp 3'