Canonical Allele Identifier: CA1112877531
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1802558750
gnomAD v3: 8-38145813-T-C
gnomAD v4: 8-38145813-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145813T>C , CM000670.2:g.38145813T>C GRCh38
NC_000008.10:g.38003331T>C , CM000670.1:g.38003331T>C GRCh37
NC_000008.9:g.38122488T>C NCBI36
NG_011827.1:g.10270A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.650+150A>G MANE Select ENSP00000276449.3:n.650+150A>G
ENST00000276449.8:c.650+150A>G ENSP00000276449.3:n.650+150A>G
ENST00000520114.1:n.1287A>G
ENST00000522050.1:c.586+150A>G
NM_000349.2:c.650+150A>G NP_000340.2:n.650+150A>G
XM_006716392.1:c.650+150A>G XP_006716455.1:n.650+150A>G
NM_000349.3:c.650+150A>G MANE Select NP_000340.2:n.650+150A>G