Canonical Allele Identifier: CA1584852904
Community Standard Title: NM_005903.7(SMAD5):c.*3751A=
Gene: SMAD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136181231A= , CM000667.2:g.136181231A= GRCh38
NC_000005.9:g.135516919A= , CM000667.1:g.135516919A= GRCh37
NC_000005.8:g.135544818A= NCBI36
NG_032037.1:g.53385A=

Transcript Alleles

HGVS Amino-acid Change
NM_005903.7:c.*3751A= MANE Select NP_005894.3:n.*3751A=
ENST00000545279.6:c.*3751A= MANE Select ENSP00000441954.2:n.*3751A=
NM_001001419.2:c.*3751A= NP_001001419.1:n.*3751A=
NM_001001419.3:c.*3751A= NP_001001419.1:n.*3751A=
NM_001001420.2:c.*3751A= NP_001001420.1:n.*3751A=
NM_001001420.3:c.*3751A= NP_001001420.1:n.*3751A=
NM_005903.6:c.*3751A= NP_005894.3:n.*3751A=
ENST00000513418.1:c.165-5930A=
ENST00000545279.5:c.*3751A= ENSP00000441954.2:n.*3751A=
ENST00000545620.5:c.*3751A= ENSP00000446474.2:n.*3751A=
XM_017009470.2:c.*3751A= XP_016864959.1:n.*3751A=
XM_024446046.1:c.*3751A= XP_024301814.1:n.*3751A=
XM_024446047.1:c.*3751A= XP_024301815.1:n.*3751A=