Canonical Allele Identifier: CA370696186
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1375197445
gnomAD v2: 8-38001895-G-A
gnomAD v4: 8-38144377-G-A
MyVariant Identifiers: chr8:g.38001895G>A (hg19) chr8:g.38144377G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144377G>A , CM000670.2:g.38144377G>A GRCh38
NC_000008.10:g.38001895G>A , CM000670.1:g.38001895G>A GRCh37
NC_000008.9:g.38121052G>A NCBI36
NG_011827.1:g.11706C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.754C>T MANE Select ENSP00000276449.3:p.Pro252Ser
ENST00000276449.8:c.754C>T ENSP00000276449.3:p.Pro252Ser
ENST00000520114.1:n.2723C>T
ENST00000522050.1:c.596C>T
NM_000349.2:c.754C>T NP_000340.2:p.Pro252Ser
XM_006716392.1:c.660C>T XP_006716455.1:p.Cys220=
NM_000349.3:c.754C>T MANE Select NP_000340.2:p.Pro252Ser
Search 100 bp 5'
Search 100 bp 3'