Canonical Allele Identifier: CA7212639
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

ClinVar Variation Id: 522355
ClinVar RCV Id: RCV000625468 RCV001113383 RCV000877992 RCV001700427
dbSNP Id: rs45549246
ExAC: 14:60977843 T / G
gnomAD v2: 14-60977843-T-G
gnomAD v3: 14-60511125-T-G
gnomAD v4: 14-60511125-T-G
MyVariant Identifiers: chr14:g.60977843T>G (hg19) chr14:g.60511125T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60511125T>G , CM000676.2:g.60511125T>G GRCh38
NC_000014.8:g.60977843T>G , CM000676.1:g.60977843T>G GRCh37
NC_000014.7:g.60047596T>G NCBI36
NG_008203.1:g.6906T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.614T>G (SIX6) MANE Select ENSP00000328596.5:p.Leu205Arg
ENST00000327720.5:c.614T>G (SIX6) ENSP00000328596.5:p.Leu205Arg
ENST00000556799.1:c.-144+4270A>C (C14orf39) ENSP00000451441.1:n.-144+4270A>C
NM_007374.2:c.614T>G (SIX6) NP_031400.2:p.Leu205Arg
NM_007374.3:c.614T>G (SIX6) MANE Select NP_031400.2:p.Leu205Arg
Search 100 bp 5'
Search 100 bp 3'