Canonical Allele Identifier: CA2625128298
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60645463-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645463T>A , CM000676.2:g.60645463T>A GRCh38
NC_000014.8:g.61112181T>A , CM000676.1:g.61112181T>A GRCh37
NC_000014.7:g.60181934T>A NCBI36
NG_008231.1:g.8975A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.*820A>T MANE Select ENSP00000494686.1:n.*820A>T
ENST00000247182.6:c.*820A>T ENSP00000247182.5:n.*820A>T
ENST00000553535.2:n.1363A>T
ENST00000554986.2:c.*820A>T ENSP00000452700.2:n.*820A>T
ENST00000555955.3:n.2312A>T
NM_005982.3:c.*820A>T NP_005973.1:n.*820A>T
XM_017021602.2:c.*1094A>T XP_016877091.1:n.*1094A>T
NM_005982.4:c.*820A>T MANE Select NP_005973.1:n.*820A>T
Search 100 bp 5'
Search 100 bp 3'