Canonical Allele Identifier: CA175096502
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs973013989
gnomAD v2: 8-38004514-T-G
gnomAD v3: 8-38146996-T-G
gnomAD v4: 8-38146996-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146996T>G , CM000670.2:g.38146996T>G GRCh38
NC_000008.10:g.38004514T>G , CM000670.1:g.38004514T>G GRCh37
NC_000008.9:g.38123671T>G NCBI36
NG_011827.1:g.9087A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.307-549A>C MANE Select ENSP00000276449.3:n.307-549A>C
ENST00000276449.8:c.307-549A>C ENSP00000276449.3:n.307-549A>C
ENST00000520114.1:n.794-549A>C
ENST00000521236.1:c.61-549A>C ENSP00000430030.1:n.61-549A>C
ENST00000522050.1:c.243-549A>C
NM_000349.2:c.307-549A>C NP_000340.2:n.307-549A>C
XM_006716392.1:c.307-549A>C XP_006716455.1:n.307-549A>C
NM_000349.3:c.307-549A>C MANE Select NP_000340.2:n.307-549A>C