Canonical Allele Identifier: CA175097493

Gene: STAR

Linked Data

• dbSNP Id: rs144125045
• gnomAD v3: 8-38148528-G-T
• gnomAD v4: 8-38148528-G-T
• MyVariant Identifiers: chr8:g.38006046G>T (hg19) ; chr8:g.38148528G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38148528G>T , CM000670.2:g.38148528G>T	GRCh38
NC_000008.10:g.38006046G>T , CM000670.1:g.38006046G>T	GRCh37
NC_000008.9:g.38125203G>T	NCBI36
NG_011827.1:g.7555C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.178+113C>A MANE Select	ENSP00000276449.3:n.178+113C>A
ENST00000276449.8:c.178+113C>A	ENSP00000276449.3:n.178+113C>A
ENST00000520114.1:n.465C>A
ENST00000521236.1:c.-101+113C>A	ENSP00000430030.1:n.-101+113C>A
ENST00000522050.1:c.114+113C>A
NM_000349.2:c.178+113C>A	NP_000340.2:n.178+113C>A
XM_006716392.1:c.178+113C>A	XP_006716455.1:n.178+113C>A
NM_000349.3:c.178+113C>A MANE Select	NP_000340.2:n.178+113C>A