Canonical Allele Identifier: CA851447481
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1373776612
gnomAD v3: 8-38145915-C-T
gnomAD v4: 8-38145915-C-T
MyVariant Identifiers: chr8:g.38003433C>T (hg19) chr8:g.38145915C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145915C>T , CM000670.2:g.38145915C>T GRCh38
NC_000008.10:g.38003433C>T , CM000670.1:g.38003433C>T GRCh37
NC_000008.9:g.38122590C>T NCBI36
NG_011827.1:g.10168G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.650+48G>A MANE Select ENSP00000276449.3:n.650+48G>A
ENST00000276449.8:c.650+48G>A ENSP00000276449.3:n.650+48G>A
ENST00000520114.1:n.1185G>A
ENST00000522050.1:c.586+48G>A
NM_000349.2:c.650+48G>A NP_000340.2:n.650+48G>A
XM_006716392.1:c.650+48G>A XP_006716455.1:n.650+48G>A
NM_000349.3:c.650+48G>A MANE Select NP_000340.2:n.650+48G>A
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