Canonical Allele Identifier: CA346798751
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs1410141912
gnomAD v3: 2-44942142-A-G
gnomAD v4: 2-44942142-A-G
MyVariant Identifiers: chr2:g.45169281A>G (hg19) chr2:g.44942142A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942142A>G , CM000664.2:g.44942142A>G GRCh38
NC_000002.11:g.45169281A>G , CM000664.1:g.45169281A>G GRCh37
NC_000002.10:g.45022785A>G NCBI36
NG_016222.1:g.5245A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.38A>G MANE Select ENSP00000260653.3:p.His13Arg
ENST00000260653.4:c.38A>G ENSP00000260653.3:p.His13Arg
NM_005413.3:c.38A>G NP_005404.1:p.His13Arg
XM_011533042.1:c.38A>G XP_011531344.1:p.His13Arg
NM_005413.4:c.38A>G MANE Select NP_005404.1:p.His13Arg
Search 100 bp 5'
Search 100 bp 3'