Canonical Allele Identifier: CA370704019

Gene: STAR

Linked Data

• dbSNP Id: rs1254647704
• gnomAD v2: 8-38006215-C-G
• MyVariant Identifiers: chr8:g.38006215C>G (hg19) ; chr8:g.38148697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38148697C>G , CM000670.2:g.38148697C>G	GRCh38
NC_000008.10:g.38006215C>G , CM000670.1:g.38006215C>G	GRCh37
NC_000008.9:g.38125372C>G	NCBI36
NG_011827.1:g.7386G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000276449.9:c.122G>C MANE Select	ENSP00000276449.3:p.Gly41Ala
ENST00000276449.8:c.122G>C	ENSP00000276449.3:p.Gly41Ala
ENST00000520114.1:n.296G>C
ENST00000521236.1:c.-157G>C	ENSP00000430030.1:n.-157G>C
ENST00000522050.1:c.58G>C
NM_000349.2:c.122G>C	NP_000340.2:p.Gly41Ala
XM_006716392.1:c.122G>C	XP_006716455.1:p.Gly41Ala
NM_000349.3:c.122G>C MANE Select	NP_000340.2:p.Gly41Ala