Canonical Allele Identifier: CA389910047

Gene: SIX1

Linked Data

• MyVariant Identifiers: chr14:g.61115349T>A (hg19) ; chr14:g.60648631T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60648631T>A , CM000676.2:g.60648631T>A	GRCh38
NC_000014.8:g.61115349T>A , CM000676.1:g.61115349T>A	GRCh37
NC_000014.7:g.60185102T>A	NCBI36
NG_008231.1:g.5807A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.559A>T MANE Select	ENSP00000494686.1:p.Arg187Trp
ENST00000247182.6:c.559A>T	ENSP00000247182.5:p.Arg187Trp
ENST00000553535.2:n.249-2054A>T
ENST00000554986.2:c.42-2054A>T	ENSP00000452700.2:n.42-2054A>T
ENST00000555955.3:n.1198-2054A>T
NM_005982.3:c.559A>T	NP_005973.1:p.Arg187Trp
XM_017021602.2:c.501+58A>T	XP_016877091.1:n.501+58A>T
NM_005982.4:c.559A>T MANE Select	NP_005973.1:p.Arg187Trp