Canonical Allele Identifier: CA7212586

Gene: SIX6 C14orf39

Linked Data

• ClinVar Variation Id: 445796
• ClinVar RCV Id: RCV000514964 ; RCV000765177 ; RCV001113381 ; RCV003915435
• dbSNP Id: rs146737847
• ExAC: 14:60976501 G / A
• gnomAD v2: 14-60976501-G-A
• gnomAD v3: 14-60509783-G-A
• gnomAD v4: 14-60509783-G-A
• MyVariant Identifiers: chr14:g.60976501G>A (hg19) ; chr14:g.60509783G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60509783G>A , CM000676.2:g.60509783G>A	GRCh38
NC_000014.8:g.60976501G>A , CM000676.1:g.60976501G>A	GRCh37
NC_000014.7:g.60046254G>A	NCBI36
NG_008203.1:g.5564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327720.6:c.385G>A (SIX6) MANE Select	ENSP00000328596.5:p.Glu129Lys
ENST00000327720.5:c.385G>A (SIX6)	ENSP00000328596.5:p.Glu129Lys
ENST00000556799.1:c.-144+5612C>T (C14orf39)	ENSP00000451441.1:n.-144+5612C>T
NM_007374.2:c.385G>A (SIX6)	NP_031400.2:p.Glu129Lys
NM_007374.3:c.385G>A (SIX6) MANE Select	NP_031400.2:p.Glu129Lys