Canonical Allele Identifier: CA261723670
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1002175223
gnomAD v3: 14-60649365-C-A
gnomAD v4: 14-60649365-C-A
MyVariant Identifiers: chr14:g.61116083C>A (hg19) chr14:g.60649365C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649365C>A , CM000676.2:g.60649365C>A GRCh38
NC_000014.8:g.61116083C>A , CM000676.1:g.61116083C>A GRCh37
NC_000014.7:g.60185836C>A NCBI36
NG_008231.1:g.5073G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.-176G>T MANE Select ENSP00000494686.1:n.-176G>T
ENST00000247182.6:c.-176G>T ENSP00000247182.5:n.-176G>T
ENST00000553535.2:n.248+2570G>T
ENST00000554986.2:c.42-2788G>T ENSP00000452700.2:n.42-2788G>T
ENST00000555955.3:n.1197+2570G>T
NM_005982.3:c.-176G>T NP_005973.1:n.-176G>T
XM_017021602.2:c.-176G>T XP_016877091.1:n.-176G>T
NM_005982.4:c.-176G>T MANE Select NP_005973.1:n.-176G>T
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