Canonical Allele Identifier: CA614369401
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1325127797
gnomAD v2: 14-61112172-C-T
gnomAD v3: 14-60645454-C-T
gnomAD v4: 14-60645454-C-T
MyVariant Identifiers: chr14:g.61112172C>T (hg19) chr14:g.60645454C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645454C>T , CM000676.2:g.60645454C>T GRCh38
NC_000014.8:g.61112172C>T , CM000676.1:g.61112172C>T GRCh37
NC_000014.7:g.60181925C>T NCBI36
NG_008231.1:g.8984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*829G>A MANE Select ENSP00000494686.1:n.*829G>A
ENST00000247182.6:c.*829G>A ENSP00000247182.5:n.*829G>A
ENST00000553535.2:n.1372G>A
ENST00000554986.2:c.*829G>A ENSP00000452700.2:n.*829G>A
ENST00000555955.3:n.2321G>A
NM_005982.3:c.*829G>A NP_005973.1:n.*829G>A
XM_017021602.2:c.*1103G>A XP_016877091.1:n.*1103G>A
NM_005982.4:c.*829G>A MANE Select NP_005973.1:n.*829G>A
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