Canonical Allele Identifier: CA486679913
Gene: SIX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.61112248C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645530C>T , CM000676.2:g.60645530C>T GRCh38
NC_000014.8:g.61112248C>T , CM000676.1:g.61112248C>T GRCh37
NC_000014.7:g.60182001C>T NCBI36
NG_008231.1:g.8908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*753G>A MANE Select ENSP00000494686.1:n.*753G>A
ENST00000247182.6:c.*753G>A ENSP00000247182.5:n.*753G>A
ENST00000553535.2:n.1296G>A
ENST00000554986.2:c.*753G>A ENSP00000452700.2:n.*753G>A
ENST00000555955.3:n.2245G>A
NM_005982.3:c.*753G>A NP_005973.1:n.*753G>A
XM_017021602.2:c.*1027G>A XP_016877091.1:n.*1027G>A
NM_005982.4:c.*753G>A MANE Select NP_005973.1:n.*753G>A