Canonical Allele Identifier: CA1584854087
Community Standard Title: NM_005903.7(SMAD5):c.*5074G=
Gene: SMAD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136182554G= , CM000667.2:g.136182554G= GRCh38
NC_000005.9:g.135518242G= , CM000667.1:g.135518242G= GRCh37
NC_000005.8:g.135546141G= NCBI36
NG_032037.1:g.54708G=

Transcript Alleles

HGVS Amino-acid Change
NM_005903.7:c.*5074G= MANE Select NP_005894.3:n.*5074G=
ENST00000545279.6:c.*5074G= MANE Select ENSP00000441954.2:n.*5074G=
NM_001001419.2:c.*5074G= NP_001001419.1:n.*5074G=
NM_001001419.3:c.*5074G= NP_001001419.1:n.*5074G=
NM_001001420.2:c.*5074G= NP_001001420.1:n.*5074G=
NM_001001420.3:c.*5074G= NP_001001420.1:n.*5074G=
NM_005903.6:c.*5074G= NP_005894.3:n.*5074G=
ENST00000513418.1:c.165-4607G=
ENST00000545279.5:c.*5074G= ENSP00000441954.2:n.*5074G=
ENST00000545620.5:c.*5074G= ENSP00000446474.2:n.*5074G=