Canonical Allele Identifier: CA346798695
Gene: SIX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.45169253C>T (hg19) chr2:g.44942114C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942114C>T , CM000664.2:g.44942114C>T GRCh38
NC_000002.11:g.45169253C>T , CM000664.1:g.45169253C>T GRCh37
NC_000002.10:g.45022757C>T NCBI36
NG_016222.1:g.5217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.10C>T MANE Select ENSP00000260653.3:p.Arg4Cys
ENST00000260653.4:c.10C>T ENSP00000260653.3:p.Arg4Cys
NM_005413.3:c.10C>T NP_005404.1:p.Arg4Cys
XM_011533042.1:c.10C>T XP_011531344.1:p.Arg4Cys
NM_005413.4:c.10C>T MANE Select NP_005404.1:p.Arg4Cys
Search 100 bp 5'
Search 100 bp 3'