Canonical Allele Identifier: CA851447310

Gene: STAR

Linked Data

• dbSNP Id: rs1344059527
• gnomAD v4: 8-38145568-T-C
• MyVariant Identifiers: chr8:g.38003086T>C (hg19) ; chr8:g.38145568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145568T>C , CM000670.2:g.38145568T>C	GRCh38
NC_000008.10:g.38003086T>C , CM000670.1:g.38003086T>C	GRCh37
NC_000008.9:g.38122243T>C	NCBI36
NG_011827.1:g.10515A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.651-253A>G MANE Select	ENSP00000276449.3:n.651-253A>G
ENST00000276449.8:c.651-253A>G	ENSP00000276449.3:n.651-253A>G
ENST00000520114.1:n.1532A>G
ENST00000522050.1:c.586+395A>G
NM_000349.2:c.651-253A>G	NP_000340.2:n.651-253A>G
XM_006716392.1:c.650+395A>G	XP_006716455.1:n.650+395A>G
NM_000349.3:c.651-253A>G MANE Select	NP_000340.2:n.651-253A>G