Canonical Allele Identifier: CA370695974
Gene: STAR HGNC NCBI

Linked Data

gnomAD v4: 8-38144353-G-T
COSMIC: COSM486420
MyVariant Identifiers: chr8:g.38001871G>T (hg19) chr8:g.38144353G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144353G>T , CM000670.2:g.38144353G>T GRCh38
NC_000008.10:g.38001871G>T , CM000670.1:g.38001871G>T GRCh37
NC_000008.9:g.38121028G>T NCBI36
NG_011827.1:g.11730C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.778C>A MANE Select ENSP00000276449.3:p.Leu260Met
ENST00000276449.8:c.778C>A ENSP00000276449.3:p.Leu260Met
ENST00000520114.1:n.2747C>A
ENST00000522050.1:c.620C>A
NM_000349.2:c.778C>A NP_000340.2:p.Leu260Met
XM_006716392.1:c.684C>A XP_006716455.1:p.Ser228=
NM_000349.3:c.778C>A MANE Select NP_000340.2:p.Leu260Met
Search 100 bp 5'
Search 100 bp 3'