Canonical Allele Identifier: CA614369750
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs201700039
gnomAD v2: 14-61115931-G-C
gnomAD v4: 14-60649213-G-C
MyVariant Identifiers: chr14:g.61115931G>C (hg19) chr14:g.60649213G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649213G>C , CM000676.2:g.60649213G>C GRCh38
NC_000014.8:g.61115931G>C , CM000676.1:g.61115931G>C GRCh37
NC_000014.7:g.60185684G>C NCBI36
NG_008231.1:g.5225C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-24C>G MANE Select ENSP00000494686.1:n.-24C>G
ENST00000247182.6:c.-24C>G ENSP00000247182.5:n.-24C>G
ENST00000553535.2:n.249-2636C>G
ENST00000554986.2:c.42-2636C>G ENSP00000452700.2:n.42-2636C>G
ENST00000555955.3:n.1198-2636C>G
NM_005982.3:c.-24C>G NP_005973.1:n.-24C>G
XM_017021602.2:c.-24C>G XP_016877091.1:n.-24C>G
NM_005982.4:c.-24C>G MANE Select NP_005973.1:n.-24C>G
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