Canonical Allele Identifier: CA16616943
Gene: SMPX HGNC NCBI

Linked Data

ClinVar Variation Id: 417903
ClinVar RCV Id: RCV000477909
dbSNP Id: rs1060499590

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21737698C>T , CM000685.2:g.21737698C>T GRCh38
NC_000023.10:g.21755816C>T , CM000685.1:g.21755816C>T GRCh37
NC_000023.9:g.21665737C>T NCBI36
NG_031916.1:g.25463G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379494.4:c.133-1G>A MANE Select ENSP00000368808.3:n.133-1G>A
ENST00000646008.1:c.133-1G>A ENSP00000493671.1:n.133-1G>A
ENST00000379494.3:c.133-1G>A ENSP00000368808.3:n.133-1G>A
ENST00000494525.1:n.226-1G>A
NM_014332.2:c.133-1G>A NP_055147.1:n.133-1G>A
NR_045617.1:n.364-1G>A
NM_014332.3:c.133-1G>A MANE Select NP_055147.1:n.133-1G>A
NR_045617.2:n.320-1G>A