Canonical Allele Identifier: CA707374562
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1402966821
gnomAD v3: 14-60649445-G-C
gnomAD v4: 14-60649445-G-C
MyVariant Identifiers: chr14:g.61116163G>C (hg19) chr14:g.60649445G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649445G>C , CM000676.2:g.60649445G>C GRCh38
NC_000014.8:g.61116163G>C , CM000676.1:g.61116163G>C GRCh37
NC_000014.7:g.60185916G>C NCBI36
NG_008231.1:g.4993C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-256C>G MANE Select ENSP00000494686.1:n.-256C>G
ENST00000247182.6:c.-256C>G ENSP00000247182.5:n.-256C>G
ENST00000553535.2:n.248+2490C>G
ENST00000554986.2:c.42-2868C>G ENSP00000452700.2:n.42-2868C>G
ENST00000555955.3:n.1197+2490C>G
XM_017021602.2:c.-256C>G XP_016877091.1:n.-256C>G
NM_005982.4:c.-256C>G MANE Select NP_005973.1:n.-256C>G
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