Canonical Allele Identifier: CA851447320
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1271055510
gnomAD v4: 8-38145623-C-A
MyVariant Identifiers: chr8:g.38003141C>A (hg19) chr8:g.38145623C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145623C>A , CM000670.2:g.38145623C>A GRCh38
NC_000008.10:g.38003141C>A , CM000670.1:g.38003141C>A GRCh37
NC_000008.9:g.38122298C>A NCBI36
NG_011827.1:g.10460G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.651-308G>T MANE Select ENSP00000276449.3:n.651-308G>T
ENST00000276449.8:c.651-308G>T ENSP00000276449.3:n.651-308G>T
ENST00000520114.1:n.1477G>T
ENST00000522050.1:c.586+340G>T
NM_000349.2:c.651-308G>T NP_000340.2:n.651-308G>T
XM_006716392.1:c.650+340G>T XP_006716455.1:n.650+340G>T
NM_000349.3:c.651-308G>T MANE Select NP_000340.2:n.651-308G>T
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