Canonical Allele Identifier: CA2579144009

Gene: STAR

Linked Data

• ClinVar Variation Id: 2177838
• ClinVar RCV Id: RCV002588383
• gnomAD v4: 8-38145955-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145955C>A , CM000670.2:g.38145955C>A	GRCh38
NC_000008.10:g.38003473C>A , CM000670.1:g.38003473C>A	GRCh37
NC_000008.9:g.38122630C>A	NCBI36
NG_011827.1:g.10128G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.650+8G>T MANE Select	ENSP00000276449.3:n.650+8G>T
ENST00000276449.8:c.650+8G>T	ENSP00000276449.3:n.650+8G>T
ENST00000520114.1:n.1145G>T
ENST00000522050.1:c.586+8G>T
NM_000349.2:c.650+8G>T	NP_000340.2:n.650+8G>T
XM_006716392.1:c.650+8G>T	XP_006716455.1:n.650+8G>T
NM_000349.3:c.650+8G>T MANE Select	NP_000340.2:n.650+8G>T