Canonical Allele Identifier: CA389910417

Gene: SIX1

Linked Data

• MyVariant Identifiers: chr14:g.61115519C>A (hg19) ; chr14:g.60648801C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60648801C>A , CM000676.2:g.60648801C>A	GRCh38
NC_000014.8:g.61115519C>A , CM000676.1:g.61115519C>A	GRCh37
NC_000014.7:g.60185272C>A	NCBI36
NG_008231.1:g.5637G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.389G>T MANE Select	ENSP00000494686.1:p.Cys130Phe
ENST00000247182.6:c.389G>T	ENSP00000247182.5:p.Cys130Phe
ENST00000553535.2:n.249-2224G>T
ENST00000554986.2:c.42-2224G>T	ENSP00000452700.2:n.42-2224G>T
ENST00000555955.3:n.1198-2224G>T
NM_005982.3:c.389G>T	NP_005973.1:p.Cys130Phe
XM_017021602.2:c.389G>T	XP_016877091.1:p.Cys130Phe
NM_005982.4:c.389G>T MANE Select	NP_005973.1:p.Cys130Phe