Canonical Allele Identifier: CA175095550
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs939647430
gnomAD v3: 8-38145595-G-A
gnomAD v4: 8-38145595-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145595G>A , CM000670.2:g.38145595G>A GRCh38
NC_000008.10:g.38003113G>A , CM000670.1:g.38003113G>A GRCh37
NC_000008.9:g.38122270G>A NCBI36
NG_011827.1:g.10488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.651-280C>T MANE Select ENSP00000276449.3:n.651-280C>T
ENST00000276449.8:c.651-280C>T ENSP00000276449.3:n.651-280C>T
ENST00000520114.1:n.1505C>T
ENST00000522050.1:c.586+368C>T
NM_000349.2:c.651-280C>T NP_000340.2:n.651-280C>T
XM_006716392.1:c.650+368C>T XP_006716455.1:n.650+368C>T
NM_000349.3:c.651-280C>T MANE Select NP_000340.2:n.651-280C>T