Canonical Allele Identifier: CA370695575
Gene: STAR HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.38001814G>C (hg19) chr8:g.38144296G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144296G>C , CM000670.2:g.38144296G>C GRCh38
NC_000008.10:g.38001814G>C , CM000670.1:g.38001814G>C GRCh37
NC_000008.9:g.38120971G>C NCBI36
NG_011827.1:g.11787C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.835C>G MANE Select ENSP00000276449.3:p.Pro279Ala
ENST00000276449.8:c.835C>G ENSP00000276449.3:p.Pro279Ala
ENST00000520114.1:n.2804C>G
ENST00000522050.1:c.677C>G
NM_000349.2:c.835C>G NP_000340.2:p.Pro279Ala
XM_006716392.1:c.741C>G XP_006716455.1:p.Thr247=
NM_000349.3:c.835C>G MANE Select NP_000340.2:p.Pro279Ala
Search 100 bp 5'
Search 100 bp 3'