Canonical Allele Identifier: CA175097471

Gene: STAR

Linked Data

• dbSNP Id: rs879910751
• gnomAD v3: 8-38148516-T-C
• gnomAD v4: 8-38148516-T-C
• MyVariant Identifiers: chr8:g.38006034T>C (hg19) ; chr8:g.38148516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38148516T>C , CM000670.2:g.38148516T>C	GRCh38
NC_000008.10:g.38006034T>C , CM000670.1:g.38006034T>C	GRCh37
NC_000008.9:g.38125191T>C	NCBI36
NG_011827.1:g.7567A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000276449.9:c.178+125A>G MANE Select	ENSP00000276449.3:n.178+125A>G
ENST00000276449.8:c.178+125A>G	ENSP00000276449.3:n.178+125A>G
ENST00000520114.1:n.477A>G
ENST00000521236.1:c.-101+125A>G	ENSP00000430030.1:n.-101+125A>G
ENST00000522050.1:c.114+125A>G
NM_000349.2:c.178+125A>G	NP_000340.2:n.178+125A>G
XM_006716392.1:c.178+125A>G	XP_006716455.1:n.178+125A>G
NM_000349.3:c.178+125A>G MANE Select	NP_000340.2:n.178+125A>G