Canonical Allele Identifier: CA2625128945

Gene: SIX1

Linked Data

• gnomAD v4: 14-60649323-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649323C>A , CM000676.2:g.60649323C>A	GRCh38
NC_000014.8:g.61116041C>A , CM000676.1:g.61116041C>A	GRCh37
NC_000014.7:g.60185794C>A	NCBI36
NG_008231.1:g.5115G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.-134G>T MANE Select	ENSP00000494686.1:n.-134G>T
ENST00000247182.6:c.-134G>T	ENSP00000247182.5:n.-134G>T
ENST00000553535.2:n.248+2612G>T
ENST00000554986.2:c.42-2746G>T	ENSP00000452700.2:n.42-2746G>T
ENST00000555955.3:n.1197+2612G>T
NM_005982.3:c.-134G>T	NP_005973.1:n.-134G>T
XM_017021602.2:c.-134G>T	XP_016877091.1:n.-134G>T
NM_005982.4:c.-134G>T MANE Select	NP_005973.1:n.-134G>T