Canonical Allele Identifier: CA4715154
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs780616791
ExAC: 8:38002765 G / A
gnomAD v2: 8-38002765-G-A
gnomAD v4: 8-38145247-G-A
COSMIC: COSM6447576
MyVariant Identifiers: chr8:g.38002765G>A (hg19) chr8:g.38145247G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145247G>A , CM000670.2:g.38145247G>A GRCh38
NC_000008.10:g.38002765G>A , CM000670.1:g.38002765G>A GRCh37
NC_000008.9:g.38121922G>A NCBI36
NG_011827.1:g.10836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.719C>T MANE Select ENSP00000276449.3:p.Thr240Met
ENST00000276449.8:c.719C>T ENSP00000276449.3:p.Thr240Met
ENST00000520114.1:n.1853C>T
ENST00000522050.1:c.586+716C>T
NM_000349.2:c.719C>T NP_000340.2:p.Thr240Met
XM_006716392.1:c.650+716C>T XP_006716455.1:n.650+716C>T
NM_000349.3:c.719C>T MANE Select NP_000340.2:p.Thr240Met
Search 100 bp 5'
Search 100 bp 3'