Canonical Allele Identifier: CA2625128300
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60645465-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645465G>A , CM000676.2:g.60645465G>A GRCh38
NC_000014.8:g.61112183G>A , CM000676.1:g.61112183G>A GRCh37
NC_000014.7:g.60181936G>A NCBI36
NG_008231.1:g.8973C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.*818C>T MANE Select ENSP00000494686.1:n.*818C>T
ENST00000247182.6:c.*818C>T ENSP00000247182.5:n.*818C>T
ENST00000553535.2:n.1361C>T
ENST00000554986.2:c.*818C>T ENSP00000452700.2:n.*818C>T
ENST00000555955.3:n.2310C>T
NM_005982.3:c.*818C>T NP_005973.1:n.*818C>T
XM_017021602.2:c.*1092C>T XP_016877091.1:n.*1092C>T
NM_005982.4:c.*818C>T MANE Select NP_005973.1:n.*818C>T
Search 100 bp 5'
Search 100 bp 3'