Canonical Allele Identifier: CA581430334
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1291895823
gnomAD v2: 8-38003786-C-T
gnomAD v3: 8-38146268-C-T
gnomAD v4: 8-38146268-C-T
MyVariant Identifiers: chr8:g.38003786C>T (hg19) chr8:g.38146268C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146268C>T , CM000670.2:g.38146268C>T GRCh38
NC_000008.10:g.38003786C>T , CM000670.1:g.38003786C>T GRCh37
NC_000008.9:g.38122943C>T NCBI36
NG_011827.1:g.9815G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.465+21G>A MANE Select ENSP00000276449.3:n.465+21G>A
ENST00000276449.8:c.465+21G>A ENSP00000276449.3:n.465+21G>A
ENST00000520114.1:n.952+21G>A
ENST00000522050.1:c.401+21G>A
NM_000349.2:c.465+21G>A NP_000340.2:n.465+21G>A
XM_006716392.1:c.465+21G>A XP_006716455.1:n.465+21G>A
NM_000349.3:c.465+21G>A MANE Select NP_000340.2:n.465+21G>A
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