Canonical Allele Identifier: CA4715226

Gene: STAR

Linked Data

• ClinVar Variation Id: 1353843
• ClinVar RCV Id: RCV001863631 ; RCV002489955 ; RCV002545777
• dbSNP Id: rs201579617
• ExAC: 8:38003643 T / A
• gnomAD v2: 8-38003643-T-A
• gnomAD v3: 8-38146125-T-A
• gnomAD v4: 8-38146125-T-A
• MyVariant Identifiers: chr8:g.38003643T>A (hg19) ; chr8:g.38146125T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38146125T>A , CM000670.2:g.38146125T>A	GRCh38
NC_000008.10:g.38003643T>A , CM000670.1:g.38003643T>A	GRCh37
NC_000008.9:g.38122800T>A	NCBI36
NG_011827.1:g.9958A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.488A>T MANE Select	ENSP00000276449.3:p.Asp163Val
ENST00000276449.8:c.488A>T	ENSP00000276449.3:p.Asp163Val
ENST00000520114.1:n.975A>T
ENST00000522050.1:c.424A>T
NM_000349.2:c.488A>T	NP_000340.2:p.Asp163Val
XM_006716392.1:c.488A>T	XP_006716455.1:p.Asp163Val
NM_000349.3:c.488A>T MANE Select	NP_000340.2:p.Asp163Val