Canonical Allele Identifier: CA963740491
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1894910471
gnomAD v3: 14-60644688-C-A
gnomAD v4: 14-60644688-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644688C>A , CM000676.2:g.60644688C>A GRCh38
NC_000014.8:g.61111406C>A , CM000676.1:g.61111406C>A GRCh37
NC_000014.7:g.60181159C>A NCBI36
NG_008231.1:g.9750G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1595G>T MANE Select ENSP00000494686.1:n.*1595G>T
ENST00000247182.6:c.*1595G>T ENSP00000247182.5:n.*1595G>T
NM_005982.4:c.*1595G>T MANE Select NP_005973.1:n.*1595G>T
Search 100 bp 5'
Search 100 bp 3'