Canonical Allele Identifier: CA707371092
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1283573331
MyVariant Identifiers: chr14:g.61111733T>C (hg19) chr14:g.60645015T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645015T>C , CM000676.2:g.60645015T>C GRCh38
NC_000014.8:g.61111733T>C , CM000676.1:g.61111733T>C GRCh37
NC_000014.7:g.60181486T>C NCBI36
NG_008231.1:g.9423A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1268A>G MANE Select ENSP00000494686.1:n.*1268A>G
ENST00000247182.6:c.*1268A>G ENSP00000247182.5:n.*1268A>G
ENST00000554986.2:c.*1268A>G ENSP00000452700.2:n.*1268A>G
ENST00000555955.3:n.2760A>G
NM_005982.3:c.*1268A>G NP_005973.1:n.*1268A>G
XM_017021602.2:c.*1542A>G XP_016877091.1:n.*1542A>G
NM_005982.4:c.*1268A>G MANE Select NP_005973.1:n.*1268A>G
Search 100 bp 5'
Search 100 bp 3'