Canonical Allele Identifier: CA614369368
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1180332577
gnomAD v2: 14-61111556-T-A
gnomAD v3: 14-60644838-T-A
gnomAD v4: 14-60644838-T-A
MyVariant Identifiers: chr14:g.61111556T>A (hg19) chr14:g.60644838T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644838T>A , CM000676.2:g.60644838T>A GRCh38
NC_000014.8:g.61111556T>A , CM000676.1:g.61111556T>A GRCh37
NC_000014.7:g.60181309T>A NCBI36
NG_008231.1:g.9600A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1445A>T MANE Select ENSP00000494686.1:n.*1445A>T
ENST00000247182.6:c.*1445A>T ENSP00000247182.5:n.*1445A>T
ENST00000554986.2:c.*1445A>T ENSP00000452700.2:n.*1445A>T
NM_005982.3:c.*1445A>T NP_005973.1:n.*1445A>T
XM_017021602.2:c.*1719A>T XP_016877091.1:n.*1719A>T
NM_005982.4:c.*1445A>T MANE Select NP_005973.1:n.*1445A>T
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