Canonical Allele Identifier: CA4715107
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs750404558
ExAC: 8:38001744 G / A
gnomAD v2: 8-38001744-G-A
gnomAD v3: 8-38144226-G-A
gnomAD v4: 8-38144226-G-A
MyVariant Identifiers: chr8:g.38001744G>A (hg19) chr8:g.38144226G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144226G>A , CM000670.2:g.38144226G>A GRCh38
NC_000008.10:g.38001744G>A , CM000670.1:g.38001744G>A GRCh37
NC_000008.9:g.38120901G>A NCBI36
NG_011827.1:g.11857C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.*47C>T MANE Select ENSP00000276449.3:n.*47C>T
ENST00000276449.8:c.*47C>T ENSP00000276449.3:n.*47C>T
ENST00000520114.1:n.2874C>T
ENST00000522050.1:c.747C>T
NM_000349.2:c.*47C>T NP_000340.2:n.*47C>T
XM_006716392.1:c.811C>T XP_006716455.1:p.Arg271Cys
NM_000349.3:c.*47C>T MANE Select NP_000340.2:n.*47C>T
Search 100 bp 5'
Search 100 bp 3'