Canonical Allele Identifier: CA175095563

Gene: STAR

Linked Data

• dbSNP Id: rs1026680283
• gnomAD v2: 8-38003132-T-C
• gnomAD v3: 8-38145614-T-C
• gnomAD v4: 8-38145614-T-C
• MyVariant Identifiers: chr8:g.38003132T>C (hg19) ; chr8:g.38145614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145614T>C , CM000670.2:g.38145614T>C	GRCh38
NC_000008.10:g.38003132T>C , CM000670.1:g.38003132T>C	GRCh37
NC_000008.9:g.38122289T>C	NCBI36
NG_011827.1:g.10469A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.651-299A>G MANE Select	ENSP00000276449.3:n.651-299A>G
ENST00000276449.8:c.651-299A>G	ENSP00000276449.3:n.651-299A>G
ENST00000520114.1:n.1486A>G
ENST00000522050.1:c.586+349A>G
NM_000349.2:c.651-299A>G	NP_000340.2:n.651-299A>G
XM_006716392.1:c.650+349A>G	XP_006716455.1:n.650+349A>G
NM_000349.3:c.651-299A>G MANE Select	NP_000340.2:n.651-299A>G