Canonical Allele Identifier: CA15332117
Gene: FAM47E HGNC NCBI
FAM47E-STBD1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs6812193

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76277833C>T , CM000666.2:g.76277833C>T GRCh38
NC_000004.11:g.77198986C>T , CM000666.1:g.77198986C>T GRCh37
NC_000004.10:g.77418010C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001136570.2:c.871-236C>T (FAM47E) VV NP_001130042.1:p.=
NM_001242936.1:c.577-236C>T (FAM47E) VV NP_001229865.1:p.=
NM_001242939.1:c.871-236C>T (FAM47E-STBD1) VV NP_001229868.1:p.=
XR_001741406.1:n.203-15581G>A
XR_001741407.1:n.203-15581G>A
NM_001136570.3:c.871-236C>T (FAM47E) VV NP_001130042.1:p.=
ENST00000424749.6:c.871-236C>T ENSP00000409423.2:p.=
ENST00000502320.2:n.539-236C>T
ENST00000509377.1:c.*407+6065C>T ENSP00000425528.2:p.=
ENST00000510197.5:c.577-236C>T ENSP00000422262.1:p.=
ENST00000510328.5:n.416-236C>T
ENST00000514140.1:n.387+6065C>T ENSP00000423044.2:p.=
ENST00000514365.5:c.*52+13990C>T ENSP00000424458.1:p.=
ENST00000515604.5:c.871-236C>T ENSP00000422067.1:p.=