Canonical Allele Identifier: CA370695577
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1802521989
MyVariant Identifiers: chr8:g.38001814G>T (hg19) chr8:g.38144296G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144296G>T , CM000670.2:g.38144296G>T GRCh38
NC_000008.10:g.38001814G>T , CM000670.1:g.38001814G>T GRCh37
NC_000008.9:g.38120971G>T NCBI36
NG_011827.1:g.11787C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.835C>A MANE Select ENSP00000276449.3:p.Pro279Thr
ENST00000276449.8:c.835C>A ENSP00000276449.3:p.Pro279Thr
ENST00000520114.1:n.2804C>A
ENST00000522050.1:c.677C>A
NM_000349.2:c.835C>A NP_000340.2:p.Pro279Thr
XM_006716392.1:c.741C>A XP_006716455.1:p.Thr247=
NM_000349.3:c.835C>A MANE Select NP_000340.2:p.Pro279Thr
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