Canonical Allele Identifier: CA581109592
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs748079742
gnomAD v2: 8-38001760-C-G
MyVariant Identifiers: chr8:g.38001760C>G (hg19) chr8:g.38144242C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144242C>G , CM000670.2:g.38144242C>G GRCh38
NC_000008.10:g.38001760C>G , CM000670.1:g.38001760C>G GRCh37
NC_000008.9:g.38120917C>G NCBI36
NG_011827.1:g.11841G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.*31G>C MANE Select ENSP00000276449.3:n.*31G>C
ENST00000276449.8:c.*31G>C ENSP00000276449.3:n.*31G>C
ENST00000520114.1:n.2858G>C
ENST00000522050.1:c.731G>C
NM_000349.2:c.*31G>C NP_000340.2:n.*31G>C
XM_006716392.1:c.795G>C XP_006716455.1:p.Gln265His
NM_000349.3:c.*31G>C MANE Select NP_000340.2:n.*31G>C
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