Canonical Allele Identifier: CA581109958
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1217423077
gnomAD v2: 8-38002874-T-C
gnomAD v4: 8-38145356-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145356T>C , CM000670.2:g.38145356T>C GRCh38
NC_000008.10:g.38002874T>C , CM000670.1:g.38002874T>C GRCh37
NC_000008.9:g.38122031T>C NCBI36
NG_011827.1:g.10727A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.651-41A>G MANE Select ENSP00000276449.3:n.651-41A>G
ENST00000276449.8:c.651-41A>G ENSP00000276449.3:n.651-41A>G
ENST00000520114.1:n.1744A>G
ENST00000522050.1:c.586+607A>G
NM_000349.2:c.651-41A>G NP_000340.2:n.651-41A>G
XM_006716392.1:c.650+607A>G XP_006716455.1:n.650+607A>G
NM_000349.3:c.651-41A>G MANE Select NP_000340.2:n.651-41A>G