Canonical Allele Identifier: CA446542041
Gene: SMAD5 HGNC NCBI
SMAD5-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135470055A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136134366A>C , CM000667.2:g.136134366A>C GRCh38
NC_000005.9:g.135470055A>C , CM000667.1:g.135470055A>C GRCh37
NC_000005.8:g.135497954A>C NCBI36
NG_032037.1:g.6520A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000509297.6:c.-245+407A>C (SMAD5) ENSP00000426696.2:n.-245+407A>C
ENST00000545279.6:c.-245+1404A>C (SMAD5) MANE Select ENSP00000441954.2:n.-245+1404A>C
ENST00000506223.1:c.-170+407A>C (SMAD5) ENSP00000422954.1:n.-170+407A>C
ENST00000507118.5:c.-170+1404A>C (SMAD5) ENSP00000425749.1:n.-170+1404A>C
ENST00000509297.5:c.-245+407A>C (SMAD5) ENSP00000426696.1:n.-245+407A>C
ENST00000509962.5:n.250+893A>C (SMAD5)
ENST00000511116.5:c.-329+1404A>C (SMAD5) ENSP00000424279.1:n.-329+1404A>C
ENST00000514777.1:n.59+1404A>C (SMAD5)
ENST00000515005.1:c.-245+893A>C (SMAD5) ENSP00000427330.1:n.-245+893A>C
ENST00000545279.5:c.-245+1404A>C (SMAD5) ENSP00000441954.2:n.-245+1404A>C
ENST00000545620.5:c.-170+1404A>C (SMAD5) ENSP00000446474.2:n.-170+1404A>C
NM_001001419.2:c.-329+1404A>C (SMAD5) NP_001001419.1:n.-329+1404A>C
NM_001001420.2:c.-170+1404A>C (SMAD5) NP_001001420.1:n.-170+1404A>C
NM_005903.6:c.-245+1404A>C (SMAD5) NP_005894.3:n.-245+1404A>C
NR_026763.1:n.525T>G (SMAD5-AS1)
XM_017009470.2:c.-329+893A>C (SMAD5) XP_016864959.1:n.-329+893A>C
XM_024446046.1:c.-245+893A>C (SMAD5) XP_024301814.1:n.-245+893A>C
XM_024446047.1:c.-245+407A>C (SMAD5) XP_024301815.1:n.-245+407A>C
NM_005903.7:c.-245+1404A>C (SMAD5) MANE Select NP_005894.3:n.-245+1404A>C
NM_001001419.3:c.-329+1404A>C (SMAD5) NP_001001419.1:n.-329+1404A>C
NM_001001420.3:c.-170+1404A>C (SMAD5) NP_001001420.1:n.-170+1404A>C