Canonical Allele Identifier: CA261719923
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs921564068
gnomAD v3: 14-60645452-G-A
gnomAD v4: 14-60645452-G-A
MyVariant Identifiers: chr14:g.61112170G>A (hg19) chr14:g.60645452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645452G>A , CM000676.2:g.60645452G>A GRCh38
NC_000014.8:g.61112170G>A , CM000676.1:g.61112170G>A GRCh37
NC_000014.7:g.60181923G>A NCBI36
NG_008231.1:g.8986C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*831C>T MANE Select ENSP00000494686.1:n.*831C>T
ENST00000247182.6:c.*831C>T ENSP00000247182.5:n.*831C>T
ENST00000553535.2:n.1374C>T
ENST00000554986.2:c.*831C>T ENSP00000452700.2:n.*831C>T
ENST00000555955.3:n.2323C>T
NM_005982.3:c.*831C>T NP_005973.1:n.*831C>T
XM_017021602.2:c.*1105C>T XP_016877091.1:n.*1105C>T
NM_005982.4:c.*831C>T MANE Select NP_005973.1:n.*831C>T
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