Canonical Allele Identifier: CA4715223
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs781237595
ExAC: 8:38003637 A / C
gnomAD v2: 8-38003637-A-C
gnomAD v3: 8-38146119-A-C
gnomAD v4: 8-38146119-A-C
MyVariant Identifiers: chr8:g.38003637A>C (hg19) chr8:g.38146119A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146119A>C , CM000670.2:g.38146119A>C GRCh38
NC_000008.10:g.38003637A>C , CM000670.1:g.38003637A>C GRCh37
NC_000008.9:g.38122794A>C NCBI36
NG_011827.1:g.9964T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.494T>G MANE Select ENSP00000276449.3:p.Phe165Cys
ENST00000276449.8:c.494T>G ENSP00000276449.3:p.Phe165Cys
ENST00000520114.1:n.981T>G
ENST00000522050.1:c.430T>G
NM_000349.2:c.494T>G NP_000340.2:p.Phe165Cys
XM_006716392.1:c.494T>G XP_006716455.1:p.Phe165Cys
NM_000349.3:c.494T>G MANE Select NP_000340.2:p.Phe165Cys
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