Canonical Allele Identifier: CA175097547
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2739620
ClinVar RCV Id: RCV003555548
dbSNP Id: rs371764861
gnomAD v3: 8-38148626-A-G
gnomAD v4: 8-38148626-A-G
MyVariant Identifiers: chr8:g.38006144A>G (hg19) chr8:g.38148626A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38148626A>G , CM000670.2:g.38148626A>G GRCh38
NC_000008.10:g.38006144A>G , CM000670.1:g.38006144A>G GRCh37
NC_000008.9:g.38125301A>G NCBI36
NG_011827.1:g.7457T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.178+15T>C MANE Select ENSP00000276449.3:n.178+15T>C
ENST00000276449.8:c.178+15T>C ENSP00000276449.3:n.178+15T>C
ENST00000520114.1:n.367T>C
ENST00000521236.1:c.-101+15T>C ENSP00000430030.1:n.-101+15T>C
ENST00000522050.1:c.114+15T>C
NM_000349.2:c.178+15T>C NP_000340.2:n.178+15T>C
XM_006716392.1:c.178+15T>C XP_006716455.1:n.178+15T>C
NM_000349.3:c.178+15T>C MANE Select NP_000340.2:n.178+15T>C
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