Canonical Allele Identifier: CA370696805
Gene: STAR HGNC NCBI

Linked Data

gnomAD v4: 8-38145247-G-C
MyVariant Identifiers: chr8:g.38002765G>C (hg19) chr8:g.38145247G>C (hg38)
PubMed: PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145247G>C , CM000670.2:g.38145247G>C GRCh38
NC_000008.10:g.38002765G>C , CM000670.1:g.38002765G>C GRCh37
NC_000008.9:g.38121922G>C NCBI36
NG_011827.1:g.10836C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.719C>G MANE Select ENSP00000276449.3:p.Thr240Arg
ENST00000276449.8:c.719C>G ENSP00000276449.3:p.Thr240Arg
ENST00000520114.1:n.1853C>G
ENST00000522050.1:c.586+716C>G
NM_000349.2:c.719C>G NP_000340.2:p.Thr240Arg
XM_006716392.1:c.650+716C>G XP_006716455.1:n.650+716C>G
NM_000349.3:c.719C>G MANE Select NP_000340.2:p.Thr240Arg
Search 100 bp 5'
Search 100 bp 3'