Canonical Allele Identifier: CA963743155

Gene: SIX1

Linked Data

• dbSNP Id: rs1332382694
• gnomAD v3: 14-60649437-G-A
• gnomAD v4: 14-60649437-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649437G>A , CM000676.2:g.60649437G>A	GRCh38
NC_000014.8:g.61116155G>A , CM000676.1:g.61116155G>A	GRCh37
NC_000014.7:g.60185908G>A	NCBI36
NG_008231.1:g.5001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.-248C>T MANE Select	ENSP00000494686.1:n.-248C>T
ENST00000247182.6:c.-248C>T	ENSP00000247182.5:n.-248C>T
ENST00000553535.2:n.248+2498C>T
ENST00000554986.2:c.42-2860C>T	ENSP00000452700.2:n.42-2860C>T
ENST00000555955.3:n.1197+2498C>T
NM_005982.3:c.-248C>T	NP_005973.1:n.-248C>T
XM_017021602.2:c.-248C>T	XP_016877091.1:n.-248C>T
NM_005982.4:c.-248C>T MANE Select	NP_005973.1:n.-248C>T