Canonical Allele Identifier: CA581109616
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1458965774
gnomAD v2: 8-38001934-T-C
MyVariant Identifiers: chr8:g.38001934T>C (hg19) chr8:g.38144416T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144416T>C , CM000670.2:g.38144416T>C GRCh38
NC_000008.10:g.38001934T>C , CM000670.1:g.38001934T>C GRCh37
NC_000008.9:g.38121091T>C NCBI36
NG_011827.1:g.11667A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.745-30A>G MANE Select ENSP00000276449.3:n.745-30A>G
ENST00000276449.8:c.745-30A>G ENSP00000276449.3:n.745-30A>G
ENST00000520114.1:n.2684A>G
ENST00000522050.1:c.587-30A>G
NM_000349.2:c.745-30A>G NP_000340.2:n.745-30A>G
XM_006716392.1:c.651-30A>G XP_006716455.1:n.651-30A>G
NM_000349.3:c.745-30A>G MANE Select NP_000340.2:n.745-30A>G
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