Canonical Allele Identifier: CA4715119
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs200904158
ExAC: 8:38001816 T / G
gnomAD v2: 8-38001816-T-G
gnomAD v4: 8-38144298-T-G
MyVariant Identifiers: chr8:g.38001816T>G (hg19) chr8:g.38144298T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144298T>G , CM000670.2:g.38144298T>G GRCh38
NC_000008.10:g.38001816T>G , CM000670.1:g.38001816T>G GRCh37
NC_000008.9:g.38120973T>G NCBI36
NG_011827.1:g.11785A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.833A>C MANE Select ENSP00000276449.3:p.His278Pro
ENST00000276449.8:c.833A>C ENSP00000276449.3:p.His278Pro
ENST00000520114.1:n.2802A>C
ENST00000522050.1:c.675A>C
NM_000349.2:c.833A>C NP_000340.2:p.His278Pro
XM_006716392.1:c.739A>C XP_006716455.1:p.Thr247Pro
NM_000349.3:c.833A>C MANE Select NP_000340.2:p.His278Pro
Search 100 bp 5'
Search 100 bp 3'