Canonical Allele Identifier: CA370695606
Gene: STAR HGNC NCBI

Linked Data

gnomAD v4: 8-38144299-G-T
MyVariant Identifiers: chr8:g.38001817G>T (hg19) chr8:g.38144299G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144299G>T , CM000670.2:g.38144299G>T GRCh38
NC_000008.10:g.38001817G>T , CM000670.1:g.38001817G>T GRCh37
NC_000008.9:g.38120974G>T NCBI36
NG_011827.1:g.11784C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.832C>A MANE Select ENSP00000276449.3:p.His278Asn
ENST00000276449.8:c.832C>A ENSP00000276449.3:p.His278Asn
ENST00000520114.1:n.2801C>A
ENST00000522050.1:c.674C>A
NM_000349.2:c.832C>A NP_000340.2:p.His278Asn
XM_006716392.1:c.738C>A XP_006716455.1:p.Pro246=
NM_000349.3:c.832C>A MANE Select NP_000340.2:p.His278Asn
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