Canonical Allele Identifier: CA389911252
Gene: SIX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.61115904A>G (hg19) chr14:g.60649186A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649186A>G , CM000676.2:g.60649186A>G GRCh38
NC_000014.8:g.61115904A>G , CM000676.1:g.61115904A>G GRCh37
NC_000014.7:g.60185657A>G NCBI36
NG_008231.1:g.5252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.4T>C MANE Select ENSP00000494686.1:p.Ser2Pro
ENST00000247182.6:c.4T>C ENSP00000247182.5:p.Ser2Pro
ENST00000553535.2:n.249-2609T>C
ENST00000554986.2:c.42-2609T>C ENSP00000452700.2:n.42-2609T>C
ENST00000555955.3:n.1198-2609T>C
NM_005982.3:c.4T>C NP_005973.1:p.Ser2Pro
XM_017021602.2:c.4T>C XP_016877091.1:p.Ser2Pro
NM_005982.4:c.4T>C MANE Select NP_005973.1:p.Ser2Pro
Search 100 bp 5'
Search 100 bp 3'