Canonical Allele Identifier: CA370695654

Gene: STAR

Linked Data

• gnomAD v4: 8-38144308-G-T
• MyVariant Identifiers: chr8:g.38001826G>T (hg19) ; chr8:g.38144308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38144308G>T , CM000670.2:g.38144308G>T	GRCh38
NC_000008.10:g.38001826G>T , CM000670.1:g.38001826G>T	GRCh37
NC_000008.9:g.38120983G>T	NCBI36
NG_011827.1:g.11775C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.823C>A MANE Select	ENSP00000276449.3:p.Leu275Met
ENST00000276449.8:c.823C>A	ENSP00000276449.3:p.Leu275Met
ENST00000520114.1:n.2792C>A
ENST00000522050.1:c.665C>A
NM_000349.2:c.823C>A	NP_000340.2:p.Leu275Met
XM_006716392.1:c.729C>A	XP_006716455.1:p.Ala243=
NM_000349.3:c.823C>A MANE Select	NP_000340.2:p.Leu275Met