Canonical Allele Identifier: CA7865930

Gene: SLX4

Linked Data

• ClinVar Variation Id: 436793
• ClinVar RCV Id: RCV000501939 ; RCV000539205 ; RCV001764495 ; RCV003237884
• dbSNP Id: rs144647122
• ExAC: 16:3640271 G / T
• gnomAD v2: 16-3640271-G-T
• gnomAD v3: 16-3590270-G-T
• gnomAD v4: 16-3590270-G-T
• MyVariant Identifiers: chr16:g.3640271G>T (hg19) ; chr16:g.3590270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3590270G>T , CM000678.2:g.3590270G>T	GRCh38
NC_000016.9:g.3640271G>T , CM000678.1:g.3640271G>T	GRCh37
NC_000016.8:g.3580272G>T	NCBI36
NG_028123.1:g.26315C>A , LRG_503:g.26315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.3368C>A MANE Select	ENSP00000294008.3:p.Ser1123Tyr
ENST00000294008.3:c.3368C>A	ENSP00000294008.3:p.Ser1123Tyr
NM_032444.2:c.3368C>A , LRG_503t1:c.3368C>A	NP_115820.2:p.Ser1123Tyr
XM_011522715.1:c.3368C>A	XP_011521017.1:p.Ser1123Tyr
NM_032444.3:c.3368C>A	NP_115820.2:p.Ser1123Tyr
XM_011522715.3:c.3368C>A	XP_011521017.1:p.Ser1123Tyr
XM_017023775.2:c.2546C>A	XP_016879264.1:p.Ser849Tyr
XM_024450471.1:c.3368C>A	XP_024306239.1:p.Ser1123Tyr
NM_032444.4:c.3368C>A MANE Select	NP_115820.2:p.Ser1123Tyr