Canonical Allele Identifier: CA175095657

Gene: STAR

Linked Data

• ClinVar Variation Id: 1181788
• ClinVar RCV Id: RCV001539250
• dbSNP Id: rs36065744
• gnomAD v2: 8-38003386-G-C
• gnomAD v3: 8-38145868-G-C
• gnomAD v4: 8-38145868-G-C
• MyVariant Identifiers: chr8:g.38003386G>C (hg19) ; chr8:g.38003386_38003387delinsCT (hg19) ; chr8:g.38145868G>C (hg38) ; chr8:g.38145868_38145869delinsCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145868G>C , CM000670.2:g.38145868G>C	GRCh38
NC_000008.10:g.38003386G>C , CM000670.1:g.38003386G>C	GRCh37
NC_000008.9:g.38122543G>C	NCBI36
NG_011827.1:g.10215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.650+95C>G MANE Select	ENSP00000276449.3:n.650+95C>G
ENST00000276449.8:c.650+95C>G	ENSP00000276449.3:n.650+95C>G
ENST00000520114.1:n.1232C>G
ENST00000522050.1:c.586+95C>G
NM_000349.2:c.650+95C>G	NP_000340.2:n.650+95C>G
XM_006716392.1:c.650+95C>G	XP_006716455.1:n.650+95C>G
NM_000349.3:c.650+95C>G MANE Select	NP_000340.2:n.650+95C>G