Canonical Allele Identifier: CA4715341

Gene: STAR

Linked Data

• ClinVar Variation Id: 736390
• ClinVar RCV Id: RCV000912029 ; RCV002495505
• dbSNP Id: rs529036391
• ExAC: 8:38006179 C / A
• gnomAD v2: 8-38006179-C-A
• gnomAD v3: 8-38148661-C-A
• gnomAD v4: 8-38148661-C-A
• MyVariant Identifiers: chr8:g.38006179C>A (hg19) ; chr8:g.38148661C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38148661C>A , CM000670.2:g.38148661C>A	GRCh38
NC_000008.10:g.38006179C>A , CM000670.1:g.38006179C>A	GRCh37
NC_000008.9:g.38125336C>A	NCBI36
NG_011827.1:g.7422G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.158G>T MANE Select	ENSP00000276449.3:p.Arg53Leu
ENST00000276449.8:c.158G>T	ENSP00000276449.3:p.Arg53Leu
ENST00000520114.1:n.332G>T
ENST00000521236.1:c.-121G>T	ENSP00000430030.1:n.-121G>T
ENST00000522050.1:c.94G>T
NM_000349.2:c.158G>T	NP_000340.2:p.Arg53Leu
XM_006716392.1:c.158G>T	XP_006716455.1:p.Arg53Leu
NM_000349.3:c.158G>T MANE Select	NP_000340.2:p.Arg53Leu