Canonical Allele Identifier: CA460496898
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1338824275
gnomAD v2: 8-38003546-G-T
MyVariant Identifiers: chr8:g.38003546G>T (hg19) chr8:g.38146028G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146028G>T , CM000670.2:g.38146028G>T GRCh38
NC_000008.10:g.38003546G>T , CM000670.1:g.38003546G>T GRCh37
NC_000008.9:g.38122703G>T NCBI36
NG_011827.1:g.10055C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.585C>A MANE Select ENSP00000276449.3:p.Ser195=
ENST00000276449.8:c.585C>A ENSP00000276449.3:p.Ser195=
ENST00000520114.1:n.1072C>A
ENST00000522050.1:c.521C>A
NM_000349.2:c.585C>A NP_000340.2:p.Ser195=
XM_006716392.1:c.585C>A XP_006716455.1:p.Ser195=
NM_000349.3:c.585C>A MANE Select NP_000340.2:p.Ser195=
Search 100 bp 5'
Search 100 bp 3'