Canonical Allele Identifier: CA128080390
Gene: SMAD5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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