Canonical Allele Identifier: CA1584844882
Gene: SMAD5 HGNC NCBI

Linked Data

dbSNP Id: rs1753560804

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136154246A>G , CM000667.2:g.136154246A>G GRCh38
NC_000005.9:g.135489935A>G , CM000667.1:g.135489935A>G GRCh37
NC_000005.8:g.135517834A>G NCBI36
NG_032037.1:g.26400A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509297.6:c.403+83A>G ENSP00000426696.2:n.403+83A>G
ENST00000545279.6:c.403+83A>G MANE Select ENSP00000441954.2:n.403+83A>G
ENST00000514777.1:n.60-18188A>G
ENST00000545279.5:c.403+83A>G ENSP00000441954.2:n.403+83A>G
ENST00000545620.5:c.403+83A>G ENSP00000446474.2:n.403+83A>G
NM_001001419.2:c.403+83A>G NP_001001419.1:n.403+83A>G
NM_001001420.2:c.403+83A>G NP_001001420.1:n.403+83A>G
NM_005903.6:c.403+83A>G NP_005894.3:n.403+83A>G
XR_948810.1:n.1973+1181T>C
XM_017009470.2:c.403+83A>G XP_016864959.1:n.403+83A>G
XM_024446046.1:c.403+83A>G XP_024301814.1:n.403+83A>G
XM_024446047.1:c.403+83A>G XP_024301815.1:n.403+83A>G
NM_005903.7:c.403+83A>G MANE Select NP_005894.3:n.403+83A>G
NM_001001419.3:c.403+83A>G NP_001001419.1:n.403+83A>G
NM_001001420.3:c.403+83A>G NP_001001420.1:n.403+83A>G