Canonical Allele Identifier: CA175095858
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1023165350
gnomAD v2: 8-38003566-A-G
gnomAD v3: 8-38146048-A-G
gnomAD v4: 8-38146048-A-G
MyVariant Identifiers: chr8:g.38003566A>G (hg19) chr8:g.38146048A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146048A>G , CM000670.2:g.38146048A>G GRCh38
NC_000008.10:g.38003566A>G , CM000670.1:g.38003566A>G GRCh37
NC_000008.9:g.38122723A>G NCBI36
NG_011827.1:g.10035T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.565T>C MANE Select ENSP00000276449.3:p.Cys189Arg
ENST00000276449.8:c.565T>C ENSP00000276449.3:p.Cys189Arg
ENST00000520114.1:n.1052T>C
ENST00000522050.1:c.501T>C
NM_000349.2:c.565T>C NP_000340.2:p.Cys189Arg
XM_006716392.1:c.565T>C XP_006716455.1:p.Cys189Arg
NM_000349.3:c.565T>C MANE Select NP_000340.2:p.Cys189Arg
Search 100 bp 5'
Search 100 bp 3'