Canonical Allele Identifier: CA389910065
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1239894490
gnomAD v2: 14-61115357-G-A
gnomAD v3: 14-60648639-G-A
gnomAD v4: 14-60648639-G-A
MyVariant Identifiers: chr14:g.61115357G>A (hg19) chr14:g.60648639G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648639G>A , CM000676.2:g.60648639G>A GRCh38
NC_000014.8:g.61115357G>A , CM000676.1:g.61115357G>A GRCh37
NC_000014.7:g.60185110G>A NCBI36
NG_008231.1:g.5799C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.551C>T MANE Select ENSP00000494686.1:p.Ala184Val
ENST00000247182.6:c.551C>T ENSP00000247182.5:p.Ala184Val
ENST00000553535.2:n.249-2062C>T
ENST00000554986.2:c.42-2062C>T ENSP00000452700.2:n.42-2062C>T
ENST00000555955.3:n.1198-2062C>T
NM_005982.3:c.551C>T NP_005973.1:p.Ala184Val
XM_017021602.2:c.501+50C>T XP_016877091.1:n.501+50C>T
NM_005982.4:c.551C>T MANE Select NP_005973.1:p.Ala184Val
Search 100 bp 5'
Search 100 bp 3'