Canonical Allele Identifier: CA581430506

Gene: STAR

Linked Data

• dbSNP Id: rs1317784879
• gnomAD v2: 8-38006145-G-A
• MyVariant Identifiers: chr8:g.38006145G>A (hg19) ; chr8:g.38148627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38148627G>A , CM000670.2:g.38148627G>A	GRCh38
NC_000008.10:g.38006145G>A , CM000670.1:g.38006145G>A	GRCh37
NC_000008.9:g.38125302G>A	NCBI36
NG_011827.1:g.7456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.178+14C>T MANE Select	ENSP00000276449.3:n.178+14C>T
ENST00000276449.8:c.178+14C>T	ENSP00000276449.3:n.178+14C>T
ENST00000520114.1:n.366C>T
ENST00000521236.1:c.-101+14C>T	ENSP00000430030.1:n.-101+14C>T
ENST00000522050.1:c.114+14C>T
NM_000349.2:c.178+14C>T	NP_000340.2:n.178+14C>T
XM_006716392.1:c.178+14C>T	XP_006716455.1:n.178+14C>T
NM_000349.3:c.178+14C>T MANE Select	NP_000340.2:n.178+14C>T