Canonical Allele Identifier: CA175095904
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs199902610
gnomAD v2: 8-38003614-C-T
gnomAD v3: 8-38146096-C-T
gnomAD v4: 8-38146096-C-T
MyVariant Identifiers: chr8:g.38003614C>T (hg19) chr8:g.38146096C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146096C>T , CM000670.2:g.38146096C>T GRCh38
NC_000008.10:g.38003614C>T , CM000670.1:g.38003614C>T GRCh37
NC_000008.9:g.38122771C>T NCBI36
NG_011827.1:g.9987G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.517G>A MANE Select ENSP00000276449.3:p.Glu173Lys
ENST00000276449.8:c.517G>A ENSP00000276449.3:p.Glu173Lys
ENST00000520114.1:n.1004G>A
ENST00000522050.1:c.453G>A
NM_000349.2:c.517G>A NP_000340.2:p.Glu173Lys
XM_006716392.1:c.517G>A XP_006716455.1:p.Glu173Lys
NM_000349.3:c.517G>A MANE Select NP_000340.2:p.Glu173Lys
Search 100 bp 5'
Search 100 bp 3'