Canonical Allele Identifier: CA7212821
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 497389
ClinVar RCV Id: RCV000598228 RCV002065143
dbSNP Id: rs151189392
ExAC: 14:61115506 C / T
gnomAD v2: 14-61115506-C-T
gnomAD v3: 14-60648788-C-T
gnomAD v4: 14-60648788-C-T
MyVariant Identifiers: chr14:g.61115506C>T (hg19) chr14:g.60648788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648788C>T , CM000676.2:g.60648788C>T GRCh38
NC_000014.8:g.61115506C>T , CM000676.1:g.61115506C>T GRCh37
NC_000014.7:g.60185259C>T NCBI36
NG_008231.1:g.5650G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.402G>A MANE Select ENSP00000494686.1:p.Lys134=
ENST00000247182.6:c.402G>A ENSP00000247182.5:p.Lys134=
ENST00000553535.2:n.249-2211G>A
ENST00000554986.2:c.42-2211G>A ENSP00000452700.2:n.42-2211G>A
ENST00000555955.3:n.1198-2211G>A
NM_005982.3:c.402G>A NP_005973.1:p.Lys134=
XM_017021602.2:c.402G>A XP_016877091.1:p.Lys134=
NM_005982.4:c.402G>A MANE Select NP_005973.1:p.Lys134=
Search 100 bp 5'
Search 100 bp 3'