Canonical Allele Identifier: CA175095554
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs927689476
gnomAD v4: 8-38145608-G-A
MyVariant Identifiers: chr8:g.38003126G>A (hg19) chr8:g.38145608G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145608G>A , CM000670.2:g.38145608G>A GRCh38
NC_000008.10:g.38003126G>A , CM000670.1:g.38003126G>A GRCh37
NC_000008.9:g.38122283G>A NCBI36
NG_011827.1:g.10475C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.651-293C>T MANE Select ENSP00000276449.3:n.651-293C>T
ENST00000276449.8:c.651-293C>T ENSP00000276449.3:n.651-293C>T
ENST00000520114.1:n.1492C>T
ENST00000522050.1:c.586+355C>T
NM_000349.2:c.651-293C>T NP_000340.2:n.651-293C>T
XM_006716392.1:c.650+355C>T XP_006716455.1:n.650+355C>T
NM_000349.3:c.651-293C>T MANE Select NP_000340.2:n.651-293C>T
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