Canonical Allele Identifier: CA4715112
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs777708928
ExAC: 8:38001772 G / T
gnomAD v2: 8-38001772-G-T
gnomAD v3: 8-38144254-G-T
gnomAD v4: 8-38144254-G-T
MyVariant Identifiers: chr8:g.38001772G>T (hg19) chr8:g.38144254G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144254G>T , CM000670.2:g.38144254G>T GRCh38
NC_000008.10:g.38001772G>T , CM000670.1:g.38001772G>T GRCh37
NC_000008.9:g.38120929G>T NCBI36
NG_011827.1:g.11829C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.*19C>A MANE Select ENSP00000276449.3:n.*19C>A
ENST00000276449.8:c.*19C>A ENSP00000276449.3:n.*19C>A
ENST00000520114.1:n.2846C>A
ENST00000522050.1:c.719C>A
NM_000349.2:c.*19C>A NP_000340.2:n.*19C>A
XM_006716392.1:c.783C>A XP_006716455.1:p.Pro261=
NM_000349.3:c.*19C>A MANE Select NP_000340.2:n.*19C>A
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