Canonical Allele Identifier: CA4715265
Gene: STAR HGNC NCBI
ClinVar RCV:
RCV000296652
RCV000762506
RCV003932502
ClinVar Variation:
362847
dbSNP:
34908868
gnomAD v2:
8:38003911 G / A
gnomAD v3:
8:38146393 G / A
gnomAD v4:
chr8-38146393-G-A
Joint Max Group AF 0.00302504 (NFE)
Genomes Max Group AF 0.00270337 (NFE)
Exomes Max Group AF 0.00302673 (NFE)
MyVariant.info:
GRCh38 chr8:g.38146393G>A
GRCh37 chr8:g.38003911G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146393G>A , CM000670.2:g.38146393G>A GRCh38
NC_000008.10:g.38003911G>A , CM000670.1:g.38003911G>A GRCh37
NC_000008.9:g.38123068G>A NCBI36
NG_011827.1:g.9690C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.361C>T MANE Select ENSP00000276449.3:p.Arg121Trp
ENST00000276449.8:c.361C>T ENSP00000276449.3:p.Arg121Trp
ENST00000520114.1:n.848C>T
ENST00000521236.1:c.115C>T ENSP00000430030.1:p.Arg39Trp
ENST00000522050.1:c.297C>T
NM_000349.2:c.361C>T NP_000340.2:p.Arg121Trp
XM_006716392.1:c.361C>T XP_006716455.1:p.Arg121Trp
NM_000349.3:c.361C>T MANE Select NP_000340.2:p.Arg121Trp
Search 100 bp 5'
Search 100 bp 3'