Canonical Allele Identifier: CA261722780

Gene: SIX1

Linked Data

• dbSNP Id: rs796281775
• gnomAD v4: 14-60648635-C-T
• MyVariant Identifiers: chr14:g.61115353C>T (hg19) ; chr14:g.60648635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60648635C>T , CM000676.2:g.60648635C>T	GRCh38
NC_000014.8:g.61115353C>T , CM000676.1:g.61115353C>T	GRCh37
NC_000014.7:g.60185106C>T	NCBI36
NG_008231.1:g.5803G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.555G>A MANE Select	ENSP00000494686.1:p.Lys185=
ENST00000247182.6:c.555G>A	ENSP00000247182.5:p.Lys185=
ENST00000553535.2:n.249-2058G>A
ENST00000554986.2:c.42-2058G>A	ENSP00000452700.2:n.42-2058G>A
ENST00000555955.3:n.1198-2058G>A
NM_005982.3:c.555G>A	NP_005973.1:p.Lys185=
XM_017021602.2:c.501+54G>A	XP_016877091.1:n.501+54G>A
NM_005982.4:c.555G>A MANE Select	NP_005973.1:p.Lys185=