Canonical Allele Identifier: CA4715355
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs779535529
ExAC: 8:38006216 C / T
gnomAD v2: 8-38006216-C-T
gnomAD v4: 8-38148698-C-T
MyVariant Identifiers: chr8:g.38006216C>T (hg19) chr8:g.38148698C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38148698C>T , CM000670.2:g.38148698C>T GRCh38
NC_000008.10:g.38006216C>T , CM000670.1:g.38006216C>T GRCh37
NC_000008.9:g.38125373C>T NCBI36
NG_011827.1:g.7385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.121G>A MANE Select ENSP00000276449.3:p.Gly41Arg
ENST00000276449.8:c.121G>A ENSP00000276449.3:p.Gly41Arg
ENST00000520114.1:n.295G>A
ENST00000521236.1:c.-158G>A ENSP00000430030.1:n.-158G>A
ENST00000522050.1:c.57G>A
NM_000349.2:c.121G>A NP_000340.2:p.Gly41Arg
XM_006716392.1:c.121G>A XP_006716455.1:p.Gly41Arg
NM_000349.3:c.121G>A MANE Select NP_000340.2:p.Gly41Arg
Search 100 bp 5'
Search 100 bp 3'