Canonical Allele Identifier: CA2625129147
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649457-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649457C>A , CM000676.2:g.60649457C>A GRCh38
NC_000014.8:g.61116175C>A , CM000676.1:g.61116175C>A GRCh37
NC_000014.7:g.60185928C>A NCBI36
NG_008231.1:g.4981G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-268G>T MANE Select ENSP00000494686.1:n.-268G>T
ENST00000247182.6:c.-268G>T ENSP00000247182.5:n.-268G>T
ENST00000553535.2:n.248+2478G>T
ENST00000554986.2:c.42-2880G>T ENSP00000452700.2:n.42-2880G>T
ENST00000555955.3:n.1197+2478G>T
XM_017021602.2:c.-268G>T XP_016877091.1:n.-268G>T
NM_005982.4:c.-268G>T MANE Select NP_005973.1:n.-268G>T
Search 100 bp 5'
Search 100 bp 3'