Canonical Allele Identifier: CA581110323
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1478514571
gnomAD v2: 8-38006048-C-T
gnomAD v3: 8-38148530-C-T
gnomAD v4: 8-38148530-C-T
MyVariant Identifiers: chr8:g.38006048C>T (hg19) chr8:g.38148530C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38148530C>T , CM000670.2:g.38148530C>T GRCh38
NC_000008.10:g.38006048C>T , CM000670.1:g.38006048C>T GRCh37
NC_000008.9:g.38125205C>T NCBI36
NG_011827.1:g.7553G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.178+111G>A MANE Select ENSP00000276449.3:n.178+111G>A
ENST00000276449.8:c.178+111G>A ENSP00000276449.3:n.178+111G>A
ENST00000520114.1:n.463G>A
ENST00000521236.1:c.-101+111G>A ENSP00000430030.1:n.-101+111G>A
ENST00000522050.1:c.114+111G>A
NM_000349.2:c.178+111G>A NP_000340.2:n.178+111G>A
XM_006716392.1:c.178+111G>A XP_006716455.1:n.178+111G>A
NM_000349.3:c.178+111G>A MANE Select NP_000340.2:n.178+111G>A
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