Canonical Allele Identifier: CA370698674
Gene: STAR HGNC NCBI

Linked Data

gnomAD v4: 8-38145966-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145966A>G , CM000670.2:g.38145966A>G GRCh38
NC_000008.10:g.38003484A>G , CM000670.1:g.38003484A>G GRCh37
NC_000008.9:g.38122641A>G NCBI36
NG_011827.1:g.10117T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.647T>C MANE Select ENSP00000276449.3:p.Ile216Thr
ENST00000276449.8:c.647T>C ENSP00000276449.3:p.Ile216Thr
ENST00000520114.1:n.1134T>C
ENST00000522050.1:c.583T>C
NM_000349.2:c.647T>C NP_000340.2:p.Ile216Thr
XM_006716392.1:c.647T>C XP_006716455.1:p.Ile216Thr
NM_000349.3:c.647T>C MANE Select NP_000340.2:p.Ile216Thr