Canonical Allele Identifier: CA7212884
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 882199
ClinVar RCV Id: RCV001111663 RCV001111664
dbSNP Id: rs201700039
ExAC: 14:61115931 G / A
gnomAD v2: 14-61115931-G-A
gnomAD v3: 14-60649213-G-A
gnomAD v4: 14-60649213-G-A
MyVariant Identifiers: chr14:g.61115931G>A (hg19) chr14:g.60649213G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649213G>A , CM000676.2:g.60649213G>A GRCh38
NC_000014.8:g.61115931G>A , CM000676.1:g.61115931G>A GRCh37
NC_000014.7:g.60185684G>A NCBI36
NG_008231.1:g.5225C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-24C>T MANE Select ENSP00000494686.1:n.-24C>T
ENST00000247182.6:c.-24C>T ENSP00000247182.5:n.-24C>T
ENST00000553535.2:n.249-2636C>T
ENST00000554986.2:c.42-2636C>T ENSP00000452700.2:n.42-2636C>T
ENST00000555955.3:n.1198-2636C>T
NM_005982.3:c.-24C>T NP_005973.1:n.-24C>T
XM_017021602.2:c.-24C>T XP_016877091.1:n.-24C>T
NM_005982.4:c.-24C>T MANE Select NP_005973.1:n.-24C>T
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