Canonical Allele Identifier: CA707371205
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1371367195
gnomAD v3: 14-60645457-G-A
gnomAD v4: 14-60645457-G-A
MyVariant Identifiers: chr14:g.61112175G>A (hg19) chr14:g.60645457G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645457G>A , CM000676.2:g.60645457G>A GRCh38
NC_000014.8:g.61112175G>A , CM000676.1:g.61112175G>A GRCh37
NC_000014.7:g.60181928G>A NCBI36
NG_008231.1:g.8981C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.*826C>T MANE Select ENSP00000494686.1:n.*826C>T
ENST00000247182.6:c.*826C>T ENSP00000247182.5:n.*826C>T
ENST00000553535.2:n.1369C>T
ENST00000554986.2:c.*826C>T ENSP00000452700.2:n.*826C>T
ENST00000555955.3:n.2318C>T
NM_005982.3:c.*826C>T NP_005973.1:n.*826C>T
XM_017021602.2:c.*1100C>T XP_016877091.1:n.*1100C>T
NM_005982.4:c.*826C>T MANE Select NP_005973.1:n.*826C>T
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