Canonical Allele Identifier: CA175095816
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1015666075
gnomAD v4: 8-38146020-A-G
MyVariant Identifiers: chr8:g.38003538A>G (hg19) chr8:g.38146020A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146020A>G , CM000670.2:g.38146020A>G GRCh38
NC_000008.10:g.38003538A>G , CM000670.1:g.38003538A>G GRCh37
NC_000008.9:g.38122695A>G NCBI36
NG_011827.1:g.10063T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.593T>C MANE Select ENSP00000276449.3:p.Val198Ala
ENST00000276449.8:c.593T>C ENSP00000276449.3:p.Val198Ala
ENST00000520114.1:n.1080T>C
ENST00000522050.1:c.529T>C
NM_000349.2:c.593T>C NP_000340.2:p.Val198Ala
XM_006716392.1:c.593T>C XP_006716455.1:p.Val198Ala
NM_000349.3:c.593T>C MANE Select NP_000340.2:p.Val198Ala
Search 100 bp 5'
Search 100 bp 3'