Canonical Allele Identifier: CA175095524
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs575334952
gnomAD v2: 8-38003059-C-T
gnomAD v3: 8-38145541-C-T
gnomAD v4: 8-38145541-C-T
MyVariant Identifiers: chr8:g.38003059C>T (hg19) chr8:g.38145541C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145541C>T , CM000670.2:g.38145541C>T GRCh38
NC_000008.10:g.38003059C>T , CM000670.1:g.38003059C>T GRCh37
NC_000008.9:g.38122216C>T NCBI36
NG_011827.1:g.10542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.651-226G>A MANE Select ENSP00000276449.3:n.651-226G>A
ENST00000276449.8:c.651-226G>A ENSP00000276449.3:n.651-226G>A
ENST00000520114.1:n.1559G>A
ENST00000522050.1:c.586+422G>A
NM_000349.2:c.651-226G>A NP_000340.2:n.651-226G>A
XM_006716392.1:c.650+422G>A XP_006716455.1:n.650+422G>A
NM_000349.3:c.651-226G>A MANE Select NP_000340.2:n.651-226G>A
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