Canonical Allele Identifier: CA581109614
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1203420199
gnomAD v2: 8-38001929-G-A
gnomAD v4: 8-38144411-G-A
MyVariant Identifiers: chr8:g.38001929G>A (hg19) chr8:g.38144411G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144411G>A , CM000670.2:g.38144411G>A GRCh38
NC_000008.10:g.38001929G>A , CM000670.1:g.38001929G>A GRCh37
NC_000008.9:g.38121086G>A NCBI36
NG_011827.1:g.11672C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.745-25C>T MANE Select ENSP00000276449.3:n.745-25C>T
ENST00000276449.8:c.745-25C>T ENSP00000276449.3:n.745-25C>T
ENST00000520114.1:n.2689C>T
ENST00000522050.1:c.587-25C>T
NM_000349.2:c.745-25C>T NP_000340.2:n.745-25C>T
XM_006716392.1:c.651-25C>T XP_006716455.1:n.651-25C>T
NM_000349.3:c.745-25C>T MANE Select NP_000340.2:n.745-25C>T
Search 100 bp 5'
Search 100 bp 3'