Canonical Allele Identifier: CA175095544
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1008022846
gnomAD v2: 8-38003097-A-G
gnomAD v3: 8-38145579-A-G
gnomAD v4: 8-38145579-A-G
MyVariant Identifiers: chr8:g.38003097A>G (hg19) chr8:g.38145579A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145579A>G , CM000670.2:g.38145579A>G GRCh38
NC_000008.10:g.38003097A>G , CM000670.1:g.38003097A>G GRCh37
NC_000008.9:g.38122254A>G NCBI36
NG_011827.1:g.10504T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.651-264T>C MANE Select ENSP00000276449.3:n.651-264T>C
ENST00000276449.8:c.651-264T>C ENSP00000276449.3:n.651-264T>C
ENST00000520114.1:n.1521T>C
ENST00000522050.1:c.586+384T>C
NM_000349.2:c.651-264T>C NP_000340.2:n.651-264T>C
XM_006716392.1:c.650+384T>C XP_006716455.1:n.650+384T>C
NM_000349.3:c.651-264T>C MANE Select NP_000340.2:n.651-264T>C
Search 100 bp 5'
Search 100 bp 3'