Canonical Allele Identifier: CA346798712
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs1666586801
MyVariant Identifiers: chr2:g.45169263T>A (hg19) chr2:g.44942124T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942124T>A , CM000664.2:g.44942124T>A GRCh38
NC_000002.11:g.45169263T>A , CM000664.1:g.45169263T>A GRCh37
NC_000002.10:g.45022767T>A NCBI36
NG_016222.1:g.5227T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.20T>A MANE Select ENSP00000260653.3:p.Leu7Gln
ENST00000260653.4:c.20T>A ENSP00000260653.3:p.Leu7Gln
NM_005413.3:c.20T>A NP_005404.1:p.Leu7Gln
XM_011533042.1:c.20T>A XP_011531344.1:p.Leu7Gln
NM_005413.4:c.20T>A MANE Select NP_005404.1:p.Leu7Gln
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