Canonical Allele Identifier: CA175091775
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1057189474
MyVariant Identifiers: chr8:g.38002756A>T (hg19) chr8:g.38145238A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145238A>T , CM000670.2:g.38145238A>T GRCh38
NC_000008.10:g.38002756A>T , CM000670.1:g.38002756A>T GRCh37
NC_000008.9:g.38121913A>T NCBI36
NG_011827.1:g.10845T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.728T>A MANE Select ENSP00000276449.3:p.Leu243His
ENST00000276449.8:c.728T>A ENSP00000276449.3:p.Leu243His
ENST00000520114.1:n.1862T>A
ENST00000522050.1:c.586+725T>A
NM_000349.2:c.728T>A NP_000340.2:p.Leu243His
XM_006716392.1:c.650+725T>A XP_006716455.1:n.650+725T>A
NM_000349.3:c.728T>A MANE Select NP_000340.2:p.Leu243His
Search 100 bp 5'
Search 100 bp 3'