Canonical Allele Identifier: CA389910048
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1311450
ClinVar RCV Id: RCV001752433
dbSNP Id: rs1594673095
gnomAD v4: 14-60648631-T-C
MyVariant Identifiers: chr14:g.61115349T>C (hg19) chr14:g.60648631T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648631T>C , CM000676.2:g.60648631T>C GRCh38
NC_000014.8:g.61115349T>C , CM000676.1:g.61115349T>C GRCh37
NC_000014.7:g.60185102T>C NCBI36
NG_008231.1:g.5807A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.559A>G MANE Select ENSP00000494686.1:p.Arg187Gly
ENST00000247182.6:c.559A>G ENSP00000247182.5:p.Arg187Gly
ENST00000553535.2:n.249-2054A>G
ENST00000554986.2:c.42-2054A>G ENSP00000452700.2:n.42-2054A>G
ENST00000555955.3:n.1198-2054A>G
NM_005982.3:c.559A>G NP_005973.1:p.Arg187Gly
XM_017021602.2:c.501+58A>G XP_016877091.1:n.501+58A>G
NM_005982.4:c.559A>G MANE Select NP_005973.1:p.Arg187Gly
Search 100 bp 5'
Search 100 bp 3'