Canonical Allele Identifier: CA3420910
Gene: SMAD5 HGNC NCBI
COSMIC:
COSN19711853 (not active)
MyVariant.info:
GRCh38 chr5:g.136174344T>A
GRCh37 chr5:g.135510033T>A
gnomAD v2:
5:135510033 T / A
gnomAD v3:
5:136174344 T / A
gnomAD v4:
chr5-136174344-T-A
Joint Max Group AF 0.52558776 (AFR)
Genomes Max Group AF 0.52146694 (AFR)
Exomes Max Group AF 0.52669608 (AFR)
dbSNP:
4146185
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136174344T>A , CM000667.2:g.136174344T>A GRCh38
NC_000005.9:g.135510033T>A , CM000667.1:g.135510033T>A GRCh37
NC_000005.8:g.135537932T>A NCBI36
NG_032037.1:g.46498T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509297.6:c.998-32T>A ENSP00000426696.2:n.998-32T>A
ENST00000545279.6:c.998-32T>A MANE Select ENSP00000441954.2:n.998-32T>A
ENST00000514777.1:n.282-32T>A
ENST00000545279.5:c.998-32T>A ENSP00000441954.2:n.998-32T>A
ENST00000545620.5:c.998-32T>A ENSP00000446474.2:n.998-32T>A
NM_001001419.2:c.998-32T>A NP_001001419.1:n.998-32T>A
NM_001001420.2:c.998-32T>A NP_001001420.1:n.998-32T>A
NM_005903.6:c.998-32T>A NP_005894.3:n.998-32T>A
XM_017009470.2:c.998-32T>A XP_016864959.1:n.998-32T>A
XM_024446046.1:c.998-32T>A XP_024301814.1:n.998-32T>A
XM_024446047.1:c.998-32T>A XP_024301815.1:n.998-32T>A
NM_005903.7:c.998-32T>A MANE Select NP_005894.3:n.998-32T>A
NM_001001419.3:c.998-32T>A NP_001001419.1:n.998-32T>A
NM_001001420.3:c.998-32T>A NP_001001420.1:n.998-32T>A
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