Canonical Allele Identifier: CA346798711
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942123-C-G
MyVariant Identifiers: chr2:g.45169262C>G (hg19) chr2:g.44942123C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.19C>G MANE Select ENSP00000260653.3:p.Leu7Val
ENST00000260653.4:c.19C>G ENSP00000260653.3:p.Leu7Val
NM_005413.3:c.19C>G NP_005404.1:p.Leu7Val
XM_011533042.1:c.19C>G XP_011531344.1:p.Leu7Val
NM_005413.4:c.19C>G MANE Select NP_005404.1:p.Leu7Val
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