Canonical Allele Identifier: CA15474761
Gene: SMLR1 HGNC NCBI
EPB41L2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1360756

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.130828276C>T , CM000668.2:g.130828276C>T GRCh38
NC_000006.11:g.131149416C>T , CM000668.1:g.131149416C>T GRCh37
NC_000006.10:g.131191109C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001195597.1:c.238+625C>T (SMLR1) VV NP_001182526.1:p.=
XR_942326.1:n.4762G>A (EPB41L2)
XR_001743213.2:n.4523G>A (EPB41L2)
ENST00000541421.2:c.238+625C>T ENSP00000456026.1:p.=