Canonical Allele Identifier: CA1584844850
Gene: SMAD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136154213C= , CM000667.2:g.136154213C= GRCh38
NC_000005.9:g.135489902C= , CM000667.1:g.135489902C= GRCh37
NC_000005.8:g.135517801C= NCBI36
NG_032037.1:g.26367C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000509297.6:c.403+50C= ENSP00000426696.2:n.403+50C=
ENST00000545279.6:c.403+50C= MANE Select ENSP00000441954.2:n.403+50C=
ENST00000514777.1:n.60-18221C=
ENST00000545279.5:c.403+50C= ENSP00000441954.2:n.403+50C=
ENST00000545620.5:c.403+50C= ENSP00000446474.2:n.403+50C=
NM_001001419.2:c.403+50C= NP_001001419.1:n.403+50C=
NM_001001420.2:c.403+50C= NP_001001420.1:n.403+50C=
NM_005903.6:c.403+50C= NP_005894.3:n.403+50C=
XR_948810.1:n.1973+1214G=
XM_017009470.2:c.403+50C= XP_016864959.1:n.403+50C=
XM_024446046.1:c.403+50C= XP_024301814.1:n.403+50C=
XM_024446047.1:c.403+50C= XP_024301815.1:n.403+50C=
NM_005903.7:c.403+50C= MANE Select NP_005894.3:n.403+50C=
NM_001001419.3:c.403+50C= NP_001001419.1:n.403+50C=
NM_001001420.3:c.403+50C= NP_001001420.1:n.403+50C=