Canonical Allele Identifier: CA175096016

Gene: STAR

Linked Data

• dbSNP Id: rs906045183
• gnomAD v2: 8-38003719-C-T
• gnomAD v3: 8-38146201-C-T
• gnomAD v4: 8-38146201-C-T
• MyVariant Identifiers: chr8:g.38003719C>T (hg19) ; chr8:g.38146201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38146201C>T , CM000670.2:g.38146201C>T	GRCh38
NC_000008.10:g.38003719C>T , CM000670.1:g.38003719C>T	GRCh37
NC_000008.9:g.38122876C>T	NCBI36
NG_011827.1:g.9882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.466-54G>A MANE Select	ENSP00000276449.3:n.466-54G>A
ENST00000276449.8:c.466-54G>A	ENSP00000276449.3:n.466-54G>A
ENST00000520114.1:n.953-54G>A
ENST00000522050.1:c.402-54G>A
NM_000349.2:c.466-54G>A	NP_000340.2:n.466-54G>A
XM_006716392.1:c.466-54G>A	XP_006716455.1:n.466-54G>A
NM_000349.3:c.466-54G>A MANE Select	NP_000340.2:n.466-54G>A