Canonical Allele Identifier: CA370704027
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs779535529
gnomAD v3: 8-38148698-C-G
gnomAD v4: 8-38148698-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.121G>C MANE Select ENSP00000276449.3:p.Gly41Arg
ENST00000276449.8:c.121G>C ENSP00000276449.3:p.Gly41Arg
ENST00000520114.1:n.295G>C
ENST00000521236.1:c.-158G>C ENSP00000430030.1:n.-158G>C
ENST00000522050.1:c.57G>C
NM_000349.2:c.121G>C NP_000340.2:p.Gly41Arg
XM_006716392.1:c.121G>C XP_006716455.1:p.Gly41Arg
NM_000349.3:c.121G>C MANE Select NP_000340.2:p.Gly41Arg