Canonical Allele Identifier: CA175095655
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs567668470
gnomAD v3: 8-38145848-C-A
gnomAD v4: 8-38145848-C-A
MyVariant Identifiers: chr8:g.38003366C>A (hg19) chr8:g.38145848C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145848C>A , CM000670.2:g.38145848C>A GRCh38
NC_000008.10:g.38003366C>A , CM000670.1:g.38003366C>A GRCh37
NC_000008.9:g.38122523C>A NCBI36
NG_011827.1:g.10235G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.650+115G>T MANE Select ENSP00000276449.3:n.650+115G>T
ENST00000276449.8:c.650+115G>T ENSP00000276449.3:n.650+115G>T
ENST00000520114.1:n.1252G>T
ENST00000522050.1:c.586+115G>T
NM_000349.2:c.650+115G>T NP_000340.2:n.650+115G>T
XM_006716392.1:c.650+115G>T XP_006716455.1:n.650+115G>T
NM_000349.3:c.650+115G>T MANE Select NP_000340.2:n.650+115G>T
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