Canonical Allele Identifier: CA4715111
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs756164466
ExAC: 8:38001763 G / C
gnomAD v2: 8-38001763-G-C
gnomAD v4: 8-38144245-G-C
MyVariant Identifiers: chr8:g.38001763G>C (hg19) chr8:g.38144245G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144245G>C , CM000670.2:g.38144245G>C GRCh38
NC_000008.10:g.38001763G>C , CM000670.1:g.38001763G>C GRCh37
NC_000008.9:g.38120920G>C NCBI36
NG_011827.1:g.11838C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.*28C>G MANE Select ENSP00000276449.3:n.*28C>G
ENST00000276449.8:c.*28C>G ENSP00000276449.3:n.*28C>G
ENST00000520114.1:n.2855C>G
ENST00000522050.1:c.728C>G
NM_000349.2:c.*28C>G NP_000340.2:n.*28C>G
XM_006716392.1:c.792C>G XP_006716455.1:p.Ala264=
NM_000349.3:c.*28C>G MANE Select NP_000340.2:n.*28C>G
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