Canonical Allele Identifier: CA175095548
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs899615867
gnomAD v2: 8-38003110-G-A
gnomAD v3: 8-38145592-G-A
gnomAD v4: 8-38145592-G-A
MyVariant Identifiers: chr8:g.38003110G>A (hg19) chr8:g.38145592G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145592G>A , CM000670.2:g.38145592G>A GRCh38
NC_000008.10:g.38003110G>A , CM000670.1:g.38003110G>A GRCh37
NC_000008.9:g.38122267G>A NCBI36
NG_011827.1:g.10491C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.651-277C>T MANE Select ENSP00000276449.3:n.651-277C>T
ENST00000276449.8:c.651-277C>T ENSP00000276449.3:n.651-277C>T
ENST00000520114.1:n.1508C>T
ENST00000522050.1:c.586+371C>T
NM_000349.2:c.651-277C>T NP_000340.2:n.651-277C>T
XM_006716392.1:c.650+371C>T XP_006716455.1:n.650+371C>T
NM_000349.3:c.651-277C>T MANE Select NP_000340.2:n.651-277C>T
Search 100 bp 5'
Search 100 bp 3'