Canonical Allele Identifier: CA1777410462
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1802553858
gnomAD v3: 8-38145523-C-G
gnomAD v4: 8-38145523-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145523C>G , CM000670.2:g.38145523C>G GRCh38
NC_000008.10:g.38003041C>G , CM000670.1:g.38003041C>G GRCh37
NC_000008.9:g.38122198C>G NCBI36
NG_011827.1:g.10560G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.651-208G>C MANE Select ENSP00000276449.3:n.651-208G>C
ENST00000276449.8:c.651-208G>C ENSP00000276449.3:n.651-208G>C
ENST00000520114.1:n.1577G>C
ENST00000522050.1:c.586+440G>C
NM_000349.2:c.651-208G>C NP_000340.2:n.651-208G>C
XM_006716392.1:c.650+440G>C XP_006716455.1:n.650+440G>C
NM_000349.3:c.651-208G>C MANE Select NP_000340.2:n.651-208G>C