Canonical Allele Identifier: CA175091709
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs931476975
gnomAD v2: 8-38002644-A-G
gnomAD v3: 8-38145126-A-G
gnomAD v4: 8-38145126-A-G
MyVariant Identifiers: chr8:g.38002644A>G (hg19) chr8:g.38145126A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145126A>G , CM000670.2:g.38145126A>G GRCh38
NC_000008.10:g.38002644A>G , CM000670.1:g.38002644A>G GRCh37
NC_000008.9:g.38121801A>G NCBI36
NG_011827.1:g.10957T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.744+96T>C MANE Select ENSP00000276449.3:n.744+96T>C
ENST00000276449.8:c.744+96T>C ENSP00000276449.3:n.744+96T>C
ENST00000520114.1:n.1974T>C
ENST00000522050.1:c.587-740T>C
NM_000349.2:c.744+96T>C NP_000340.2:n.744+96T>C
XM_006716392.1:c.651-740T>C XP_006716455.1:n.651-740T>C
NM_000349.3:c.744+96T>C MANE Select NP_000340.2:n.744+96T>C
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