Canonical Allele Identifier: CA10640400

Gene: SIX1

Linked Data

• ClinVar Variation Id: 313449
• ClinVar RCV Id: RCV000296012 ; RCV000386067
• dbSNP Id: rs574976629
• gnomAD v2: 14-61112234-T-A
• gnomAD v3: 14-60645516-T-A
• gnomAD v4: 14-60645516-T-A
• MyVariant Identifiers: chr14:g.61112234T>A (hg19) ; chr14:g.61112234_61112236delinsAAA (hg19) ; chr14:g.60645516T>A (hg38) ; chr14:g.60645516_60645518delinsAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60645516T>A , CM000676.2:g.60645516T>A	GRCh38
NC_000014.8:g.61112234T>A , CM000676.1:g.61112234T>A	GRCh37
NC_000014.7:g.60181987T>A	NCBI36
NG_008231.1:g.8922A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.*767A>T MANE Select	ENSP00000494686.1:n.*767A>T
ENST00000247182.6:c.*767A>T	ENSP00000247182.5:n.*767A>T
ENST00000553535.2:n.1310A>T
ENST00000554986.2:c.*767A>T	ENSP00000452700.2:n.*767A>T
ENST00000555955.3:n.2259A>T
NM_005982.3:c.*767A>T	NP_005973.1:n.*767A>T
XM_017021602.2:c.*1041A>T	XP_016877091.1:n.*1041A>T
NM_005982.4:c.*767A>T MANE Select	NP_005973.1:n.*767A>T