Canonical Allele Identifier: CA15371559
Gene: SMAD5 HGNC NCBI

Linked Data

dbSNP Id: rs7356756
gnomAD v2: 5-135471034-T-C
gnomAD v3: 5-136135345-T-C
gnomAD v4: 5-136135345-T-C
MyVariant Identifiers: chr5:g.135471034T>C (hg19) chr5:g.136135345T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136135345T>C , CM000667.2:g.136135345T>C GRCh38
NC_000005.9:g.135471034T>C , CM000667.1:g.135471034T>C GRCh37
NC_000005.8:g.135498933T>C NCBI36
NG_032037.1:g.7499T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000509297.6:c.-245+1386T>C ENSP00000426696.2:n.-245+1386T>C
ENST00000545279.6:c.-245+2383T>C MANE Select ENSP00000441954.2:n.-245+2383T>C
ENST00000506223.1:c.-170+1386T>C ENSP00000422954.1:n.-170+1386T>C
ENST00000507118.5:c.-170+2383T>C ENSP00000425749.1:n.-170+2383T>C
ENST00000509297.5:c.-245+1386T>C ENSP00000426696.1:n.-245+1386T>C
ENST00000509962.5:n.250+1872T>C
ENST00000511116.5:c.-329+2383T>C ENSP00000424279.1:n.-329+2383T>C
ENST00000514777.1:n.59+2383T>C
ENST00000515005.1:c.-245+1872T>C ENSP00000427330.1:n.-245+1872T>C
ENST00000545279.5:c.-245+2383T>C ENSP00000441954.2:n.-245+2383T>C
ENST00000545620.5:c.-170+2383T>C ENSP00000446474.2:n.-170+2383T>C
NM_001001419.2:c.-329+2383T>C NP_001001419.1:n.-329+2383T>C
NM_001001420.2:c.-170+2383T>C NP_001001420.1:n.-170+2383T>C
NM_005903.6:c.-245+2383T>C NP_005894.3:n.-245+2383T>C
XM_017009470.2:c.-329+1872T>C XP_016864959.1:n.-329+1872T>C
XM_024446046.1:c.-245+1872T>C XP_024301814.1:n.-245+1872T>C
XM_024446047.1:c.-245+1386T>C XP_024301815.1:n.-245+1386T>C
NM_005903.7:c.-245+2383T>C MANE Select NP_005894.3:n.-245+2383T>C
NM_001001419.3:c.-329+2383T>C NP_001001419.1:n.-329+2383T>C
NM_001001420.3:c.-170+2383T>C NP_001001420.1:n.-170+2383T>C
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