Canonical Allele Identifier: CA581110040
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1243897722
gnomAD v2: 8-38004383-T-C
gnomAD v3: 8-38146865-T-C
gnomAD v4: 8-38146865-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146865T>C , CM000670.2:g.38146865T>C GRCh38
NC_000008.10:g.38004383T>C , CM000670.1:g.38004383T>C GRCh37
NC_000008.9:g.38123540T>C NCBI36
NG_011827.1:g.9218A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.307-418A>G MANE Select ENSP00000276449.3:n.307-418A>G
ENST00000276449.8:c.307-418A>G ENSP00000276449.3:n.307-418A>G
ENST00000520114.1:n.794-418A>G
ENST00000521236.1:c.61-418A>G ENSP00000430030.1:n.61-418A>G
ENST00000522050.1:c.243-418A>G
NM_000349.2:c.307-418A>G NP_000340.2:n.307-418A>G
XM_006716392.1:c.307-418A>G XP_006716455.1:n.307-418A>G
NM_000349.3:c.307-418A>G MANE Select NP_000340.2:n.307-418A>G