Canonical Allele Identifier: CA2625128191
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60644691-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644691G>A , CM000676.2:g.60644691G>A GRCh38
NC_000014.8:g.61111409G>A , CM000676.1:g.61111409G>A GRCh37
NC_000014.7:g.60181162G>A NCBI36
NG_008231.1:g.9747C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1592C>T MANE Select ENSP00000494686.1:n.*1592C>T
ENST00000247182.6:c.*1592C>T ENSP00000247182.5:n.*1592C>T
NM_005982.4:c.*1592C>T MANE Select NP_005973.1:n.*1592C>T
Search 100 bp 5'
Search 100 bp 3'