Canonical Allele Identifier: CA4715213
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 551230
ClinVar RCV Id: RCV000666231 RCV001855455
dbSNP Id: rs752311616
ExAC: 8:38003557 G / A
gnomAD v2: 8-38003557-G-A
gnomAD v4: 8-38146039-G-A
MyVariant Identifiers: chr8:g.38003557G>A (hg19) chr8:g.38146039G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146039G>A , CM000670.2:g.38146039G>A GRCh38
NC_000008.10:g.38003557G>A , CM000670.1:g.38003557G>A GRCh37
NC_000008.9:g.38122714G>A NCBI36
NG_011827.1:g.10044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.574C>T MANE Select ENSP00000276449.3:p.Arg192Cys
ENST00000276449.8:c.574C>T ENSP00000276449.3:p.Arg192Cys
ENST00000520114.1:n.1061C>T
ENST00000522050.1:c.510C>T
NM_000349.2:c.574C>T NP_000340.2:p.Arg192Cys
XM_006716392.1:c.574C>T XP_006716455.1:p.Arg192Cys
NM_000349.3:c.574C>T MANE Select NP_000340.2:p.Arg192Cys
Search 100 bp 5'
Search 100 bp 3'