Canonical Allele Identifier: CA4715109
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs781227893
gnomAD v2: 8-38001758-A-G
gnomAD v4: 8-38144240-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144240A>G , CM000670.2:g.38144240A>G GRCh38
NC_000008.10:g.38001758A>G , CM000670.1:g.38001758A>G GRCh37
NC_000008.9:g.38120915A>G NCBI36
NG_011827.1:g.11843T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.*33T>C MANE Select ENSP00000276449.3:n.*33T>C
ENST00000276449.8:c.*33T>C ENSP00000276449.3:n.*33T>C
ENST00000520114.1:n.2860T>C
ENST00000522050.1:c.733T>C
NM_000349.2:c.*33T>C NP_000340.2:n.*33T>C
XM_006716392.1:c.797T>C XP_006716455.1:p.Leu266Pro
NM_000349.3:c.*33T>C MANE Select NP_000340.2:n.*33T>C