Canonical Allele Identifier: CA370699555

Gene: STAR

Linked Data

• gnomAD v4: 8-38146098-G-A
• MyVariant Identifiers: chr8:g.38003616G>A (hg19) ; chr8:g.38146098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38146098G>A , CM000670.2:g.38146098G>A	GRCh38
NC_000008.10:g.38003616G>A , CM000670.1:g.38003616G>A	GRCh37
NC_000008.9:g.38122773G>A	NCBI36
NG_011827.1:g.9985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.515C>T MANE Select	ENSP00000276449.3:p.Ala172Val
ENST00000276449.8:c.515C>T	ENSP00000276449.3:p.Ala172Val
ENST00000520114.1:n.1002C>T
ENST00000522050.1:c.451C>T
NM_000349.2:c.515C>T	NP_000340.2:p.Ala172Val
XM_006716392.1:c.515C>T	XP_006716455.1:p.Ala172Val
NM_000349.3:c.515C>T MANE Select	NP_000340.2:p.Ala172Val