Canonical Allele Identifier: CA370696238
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1802525562
gnomAD v3: 8-38144381-C-T
gnomAD v4: 8-38144381-C-T
MyVariant Identifiers: chr8:g.38001899C>T (hg19) chr8:g.38144381C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144381C>T , CM000670.2:g.38144381C>T GRCh38
NC_000008.10:g.38001899C>T , CM000670.1:g.38001899C>T GRCh37
NC_000008.9:g.38121056C>T NCBI36
NG_011827.1:g.11702G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.750G>A MANE Select ENSP00000276449.3:p.Trp250Ter
ENST00000276449.8:c.750G>A ENSP00000276449.3:p.Trp250Ter
ENST00000520114.1:n.2719G>A
ENST00000522050.1:c.592G>A
NM_000349.2:c.750G>A NP_000340.2:p.Trp250Ter
XM_006716392.1:c.656G>A XP_006716455.1:p.Gly219Asp
NM_000349.3:c.750G>A MANE Select NP_000340.2:p.Trp250Ter
Search 100 bp 5'
Search 100 bp 3'