Canonical Allele Identifier: CA1584853165
Gene: SMAD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136181531T= , CM000667.2:g.136181531T= GRCh38
NC_000005.9:g.135517219T= , CM000667.1:g.135517219T= GRCh37
NC_000005.8:g.135545118T= NCBI36
NG_032037.1:g.53685T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545279.6:c.*4051T= MANE Select ENSP00000441954.2:n.*4051T=
ENST00000513418.1:c.165-5630T=
ENST00000545279.5:c.*4051T= ENSP00000441954.2:n.*4051T=
ENST00000545620.5:c.*4051T= ENSP00000446474.2:n.*4051T=
NM_001001419.2:c.*4051T= NP_001001419.1:n.*4051T=
NM_001001420.2:c.*4051T= NP_001001420.1:n.*4051T=
NM_005903.6:c.*4051T= NP_005894.3:n.*4051T=
XM_017009470.2:c.*4051T= XP_016864959.1:n.*4051T=
XM_024446046.1:c.*4051T= XP_024301814.1:n.*4051T=
XM_024446047.1:c.*4051T= XP_024301815.1:n.*4051T=
NM_005903.7:c.*4051T= MANE Select NP_005894.3:n.*4051T=
NM_001001419.3:c.*4051T= NP_001001419.1:n.*4051T=
NM_001001420.3:c.*4051T= NP_001001420.1:n.*4051T=