Canonical Allele Identifier: CA47011029
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs905341746
gnomAD v3: 2-44942057-C-G
gnomAD v4: 2-44942057-C-G
MyVariant Identifiers: chr2:g.45169196C>G (hg19) chr2:g.44942057C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942057C>G , CM000664.2:g.44942057C>G GRCh38
NC_000002.11:g.45169196C>G , CM000664.1:g.45169196C>G GRCh37
NC_000002.10:g.45022700C>G NCBI36
NG_016222.1:g.5160C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.-48C>G MANE Select ENSP00000260653.3:n.-48C>G
ENST00000260653.4:c.-48C>G ENSP00000260653.3:n.-48C>G
NM_005413.3:c.-48C>G NP_005404.1:n.-48C>G
XM_011533042.1:c.-48C>G XP_011531344.1:n.-48C>G
NM_005413.4:c.-48C>G MANE Select NP_005404.1:n.-48C>G
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