Canonical Allele Identifier: CA175095575
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs952327971
gnomAD v4: 8-38145629-T-C
MyVariant Identifiers: chr8:g.38003147T>C (hg19) chr8:g.38145629T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145629T>C , CM000670.2:g.38145629T>C GRCh38
NC_000008.10:g.38003147T>C , CM000670.1:g.38003147T>C GRCh37
NC_000008.9:g.38122304T>C NCBI36
NG_011827.1:g.10454A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.651-314A>G MANE Select ENSP00000276449.3:n.651-314A>G
ENST00000276449.8:c.651-314A>G ENSP00000276449.3:n.651-314A>G
ENST00000520114.1:n.1471A>G
ENST00000522050.1:c.586+334A>G
NM_000349.2:c.651-314A>G NP_000340.2:n.651-314A>G
XM_006716392.1:c.650+334A>G XP_006716455.1:n.650+334A>G
NM_000349.3:c.651-314A>G MANE Select NP_000340.2:n.651-314A>G
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