Canonical Allele Identifier: CA581430335
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs2720050
gnomAD v2: 8-38003787-T-G
MyVariant Identifiers: chr8:g.38003787T>G (hg19) chr8:g.38146269T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146269T>G , CM000670.2:g.38146269T>G GRCh38
NC_000008.10:g.38003787T>G , CM000670.1:g.38003787T>G GRCh37
NC_000008.9:g.38122944T>G NCBI36
NG_011827.1:g.9814A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.465+20A>C MANE Select ENSP00000276449.3:n.465+20A>C
ENST00000276449.8:c.465+20A>C ENSP00000276449.3:n.465+20A>C
ENST00000520114.1:n.952+20A>C
ENST00000522050.1:c.401+20A>C
NM_000349.2:c.465+20A>C NP_000340.2:n.465+20A>C
XM_006716392.1:c.465+20A>C XP_006716455.1:n.465+20A>C
NM_000349.3:c.465+20A>C MANE Select NP_000340.2:n.465+20A>C
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