Canonical Allele Identifier: CA1584853159
Gene: SMAD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136181530G= , CM000667.2:g.136181530G= GRCh38
NC_000005.9:g.135517218G= , CM000667.1:g.135517218G= GRCh37
NC_000005.8:g.135545117G= NCBI36
NG_032037.1:g.53684G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545279.6:c.*4050G= MANE Select ENSP00000441954.2:n.*4050G=
ENST00000513418.1:c.165-5631G=
ENST00000545279.5:c.*4050G= ENSP00000441954.2:n.*4050G=
ENST00000545620.5:c.*4050G= ENSP00000446474.2:n.*4050G=
NM_001001419.2:c.*4050G= NP_001001419.1:n.*4050G=
NM_001001420.2:c.*4050G= NP_001001420.1:n.*4050G=
NM_005903.6:c.*4050G= NP_005894.3:n.*4050G=
XM_017009470.2:c.*4050G= XP_016864959.1:n.*4050G=
XM_024446046.1:c.*4050G= XP_024301814.1:n.*4050G=
XM_024446047.1:c.*4050G= XP_024301815.1:n.*4050G=
NM_005903.7:c.*4050G= MANE Select NP_005894.3:n.*4050G=
NM_001001419.3:c.*4050G= NP_001001419.1:n.*4050G=
NM_001001420.3:c.*4050G= NP_001001420.1:n.*4050G=