Canonical Allele Identifier: CA2140879028
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1894994408
gnomAD v4: 14-60648551-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648551G>A , CM000676.2:g.60648551G>A GRCh38
NC_000014.8:g.61115269G>A , CM000676.1:g.61115269G>A GRCh37
NC_000014.7:g.60185022G>A NCBI36
NG_008231.1:g.5887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.560+79C>T MANE Select ENSP00000494686.1:n.560+79C>T
ENST00000247182.6:c.560+79C>T ENSP00000247182.5:n.560+79C>T
ENST00000553535.2:n.249-1974C>T
ENST00000554986.2:c.42-1974C>T ENSP00000452700.2:n.42-1974C>T
ENST00000555955.3:n.1198-1974C>T
NM_005982.3:c.560+79C>T NP_005973.1:n.560+79C>T
XM_017021602.2:c.501+138C>T XP_016877091.1:n.501+138C>T
NM_005982.4:c.560+79C>T MANE Select NP_005973.1:n.560+79C>T
Search 100 bp 5'
Search 100 bp 3'