Canonical Allele Identifier: CA389910402
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60648795-T-C
MyVariant Identifiers: chr14:g.61115513T>C (hg19) chr14:g.60648795T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648795T>C , CM000676.2:g.60648795T>C GRCh38
NC_000014.8:g.61115513T>C , CM000676.1:g.61115513T>C GRCh37
NC_000014.7:g.60185266T>C NCBI36
NG_008231.1:g.5643A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.395A>G MANE Select ENSP00000494686.1:p.Lys132Arg
ENST00000247182.6:c.395A>G ENSP00000247182.5:p.Lys132Arg
ENST00000553535.2:n.249-2218A>G
ENST00000554986.2:c.42-2218A>G ENSP00000452700.2:n.42-2218A>G
ENST00000555955.3:n.1198-2218A>G
NM_005982.3:c.395A>G NP_005973.1:p.Lys132Arg
XM_017021602.2:c.395A>G XP_016877091.1:p.Lys132Arg
NM_005982.4:c.395A>G MANE Select NP_005973.1:p.Lys132Arg
Search 100 bp 5'
Search 100 bp 3'