Canonical Allele Identifier: CA581430504
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2883206
ClinVar RCV Id: RCV003721849
dbSNP Id: rs1338969736
gnomAD v2: 8-38006139-C-A
gnomAD v3: 8-38148621-C-A
gnomAD v4: 8-38148621-C-A
MyVariant Identifiers: chr8:g.38006139C>A (hg19) chr8:g.38148621C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38148621C>A , CM000670.2:g.38148621C>A GRCh38
NC_000008.10:g.38006139C>A , CM000670.1:g.38006139C>A GRCh37
NC_000008.9:g.38125296C>A NCBI36
NG_011827.1:g.7462G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.178+20G>T MANE Select ENSP00000276449.3:n.178+20G>T
ENST00000276449.8:c.178+20G>T ENSP00000276449.3:n.178+20G>T
ENST00000520114.1:n.372G>T
ENST00000521236.1:c.-101+20G>T ENSP00000430030.1:n.-101+20G>T
ENST00000522050.1:c.114+20G>T
NM_000349.2:c.178+20G>T NP_000340.2:n.178+20G>T
XM_006716392.1:c.178+20G>T XP_006716455.1:n.178+20G>T
NM_000349.3:c.178+20G>T MANE Select NP_000340.2:n.178+20G>T
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