Canonical Allele Identifier: CA851447363
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1163249919
gnomAD v4: 8-38145668-C-T
MyVariant Identifiers: chr8:g.38003186C>T (hg19) chr8:g.38145668C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145668C>T , CM000670.2:g.38145668C>T GRCh38
NC_000008.10:g.38003186C>T , CM000670.1:g.38003186C>T GRCh37
NC_000008.9:g.38122343C>T NCBI36
NG_011827.1:g.10415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.650+295G>A MANE Select ENSP00000276449.3:n.650+295G>A
ENST00000276449.8:c.650+295G>A ENSP00000276449.3:n.650+295G>A
ENST00000520114.1:n.1432G>A
ENST00000522050.1:c.586+295G>A
NM_000349.2:c.650+295G>A NP_000340.2:n.650+295G>A
XM_006716392.1:c.650+295G>A XP_006716455.1:n.650+295G>A
NM_000349.3:c.650+295G>A MANE Select NP_000340.2:n.650+295G>A
Search 100 bp 5'
Search 100 bp 3'