Canonical Allele Identifier: CA346798902
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315869
ClinVar RCV Id: RCV001757316
dbSNP Id: rs2103641107
MyVariant Identifiers: chr2:g.45169355G>A (hg19) chr2:g.44942216G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942216G>A , CM000664.2:g.44942216G>A GRCh38
NC_000002.11:g.45169355G>A , CM000664.1:g.45169355G>A GRCh37
NC_000002.10:g.45022859G>A NCBI36
NG_016222.1:g.5319G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.112G>A MANE Select ENSP00000260653.3:p.Ala38Thr
ENST00000260653.4:c.112G>A ENSP00000260653.3:p.Ala38Thr
NM_005413.3:c.112G>A NP_005404.1:p.Ala38Thr
XM_011533042.1:c.112G>A XP_011531344.1:p.Ala38Thr
NM_005413.4:c.112G>A MANE Select NP_005404.1:p.Ala38Thr
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