Canonical Allele Identifier: CA370696780
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2830333
ClinVar RCV Id: RCV003678705
dbSNP Id: rs1460077934
MyVariant Identifiers: chr8:g.38002761C>T (hg19) chr8:g.38145243C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145243C>T , CM000670.2:g.38145243C>T GRCh38
NC_000008.10:g.38002761C>T , CM000670.1:g.38002761C>T GRCh37
NC_000008.9:g.38121918C>T NCBI36
NG_011827.1:g.10840G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.723G>A MANE Select ENSP00000276449.3:p.Trp241Ter
ENST00000276449.8:c.723G>A ENSP00000276449.3:p.Trp241Ter
ENST00000520114.1:n.1857G>A
ENST00000522050.1:c.586+720G>A
NM_000349.2:c.723G>A NP_000340.2:p.Trp241Ter
XM_006716392.1:c.650+720G>A XP_006716455.1:n.650+720G>A
NM_000349.3:c.723G>A MANE Select NP_000340.2:p.Trp241Ter
Search 100 bp 5'
Search 100 bp 3'