Canonical Allele Identifier: CA1584853123
Gene: SMAD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136181501C= , CM000667.2:g.136181501C= GRCh38
NC_000005.9:g.135517189C= , CM000667.1:g.135517189C= GRCh37
NC_000005.8:g.135545088C= NCBI36
NG_032037.1:g.53655C=

Transcript Alleles

HGVS Amino-acid change
ENST00000545279.6:c.*4021C= MANE Select ENSP00000441954.2:n.*4021C=
ENST00000513418.1:c.165-5660C=
ENST00000545279.5:c.*4021C= ENSP00000441954.2:n.*4021C=
ENST00000545620.5:c.*4021C= ENSP00000446474.2:n.*4021C=
NM_001001419.2:c.*4021C= NP_001001419.1:n.*4021C=
NM_001001420.2:c.*4021C= NP_001001420.1:n.*4021C=
NM_005903.6:c.*4021C= NP_005894.3:n.*4021C=
XM_017009470.2:c.*4021C= XP_016864959.1:n.*4021C=
XM_024446046.1:c.*4021C= XP_024301814.1:n.*4021C=
XM_024446047.1:c.*4021C= XP_024301815.1:n.*4021C=
NM_005903.7:c.*4021C= MANE Select NP_005894.3:n.*4021C=
NM_001001419.3:c.*4021C= NP_001001419.1:n.*4021C=
NM_001001420.3:c.*4021C= NP_001001420.1:n.*4021C=