Canonical Allele Identifier: CA2596567875
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs2130615012
gnomAD v3: 8-38146838-G-C
gnomAD v4: 8-38146838-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146838G>C , CM000670.2:g.38146838G>C GRCh38
NC_000008.10:g.38004356G>C , CM000670.1:g.38004356G>C GRCh37
NC_000008.9:g.38123513G>C NCBI36
NG_011827.1:g.9245C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.307-391C>G MANE Select ENSP00000276449.3:n.307-391C>G
ENST00000276449.8:c.307-391C>G ENSP00000276449.3:n.307-391C>G
ENST00000520114.1:n.794-391C>G
ENST00000521236.1:c.61-391C>G ENSP00000430030.1:n.61-391C>G
ENST00000522050.1:c.243-391C>G
NM_000349.2:c.307-391C>G NP_000340.2:n.307-391C>G
XM_006716392.1:c.307-391C>G XP_006716455.1:n.307-391C>G
NM_000349.3:c.307-391C>G MANE Select NP_000340.2:n.307-391C>G
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