Canonical Allele Identifier: CA346798710
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1399098
ClinVar RCV Id: RCV001915386
dbSNP Id: rs1490771348
gnomAD v2: 2-45169262-C-A
gnomAD v4: 2-44942123-C-A
MyVariant Identifiers: chr2:g.45169262C>A (hg19) chr2:g.44942123C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942123C>A , CM000664.2:g.44942123C>A GRCh38
NC_000002.11:g.45169262C>A , CM000664.1:g.45169262C>A GRCh37
NC_000002.10:g.45022766C>A NCBI36
NG_016222.1:g.5226C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.19C>A MANE Select ENSP00000260653.3:p.Leu7Ile
ENST00000260653.4:c.19C>A ENSP00000260653.3:p.Leu7Ile
NM_005413.3:c.19C>A NP_005404.1:p.Leu7Ile
XM_011533042.1:c.19C>A XP_011531344.1:p.Leu7Ile
NM_005413.4:c.19C>A MANE Select NP_005404.1:p.Leu7Ile
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