Canonical Allele Identifier: CA370699848
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2995568
ClinVar RCV Id: RCV003853655
dbSNP Id: rs1157869748
gnomAD v2: 8-38003659-G-A
MyVariant Identifiers: chr8:g.38003659G>A (hg19) chr8:g.38146141G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146141G>A , CM000670.2:g.38146141G>A GRCh38
NC_000008.10:g.38003659G>A , CM000670.1:g.38003659G>A GRCh37
NC_000008.9:g.38122816G>A NCBI36
NG_011827.1:g.9942C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.472C>T MANE Select ENSP00000276449.3:p.Gln158Ter
ENST00000276449.8:c.472C>T ENSP00000276449.3:p.Gln158Ter
ENST00000520114.1:n.959C>T
ENST00000522050.1:c.408C>T
NM_000349.2:c.472C>T NP_000340.2:p.Gln158Ter
XM_006716392.1:c.472C>T XP_006716455.1:p.Gln158Ter
NM_000349.3:c.472C>T MANE Select NP_000340.2:p.Gln158Ter
Search 100 bp 5'
Search 100 bp 3'