Canonical Allele Identifier: CA581109591
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1288267262
gnomAD v2: 8-38001755-T-C
gnomAD v4: 8-38144237-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144237T>C , CM000670.2:g.38144237T>C GRCh38
NC_000008.10:g.38001755T>C , CM000670.1:g.38001755T>C GRCh37
NC_000008.9:g.38120912T>C NCBI36
NG_011827.1:g.11846A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.*36A>G MANE Select ENSP00000276449.3:n.*36A>G
ENST00000276449.8:c.*36A>G ENSP00000276449.3:n.*36A>G
ENST00000520114.1:n.2863A>G
ENST00000522050.1:c.736A>G
NM_000349.2:c.*36A>G NP_000340.2:n.*36A>G
XM_006716392.1:c.800A>G XP_006716455.1:p.His267Arg
NM_000349.3:c.*36A>G MANE Select NP_000340.2:n.*36A>G