Canonical Allele Identifier: CA128098916

Gene: SMAD5

Linked Data

• dbSNP Id: rs910249914
• gnomAD v3: 5-136154226-G-A
• gnomAD v4: 5-136154226-G-A
• COSMIC: COSN20041012
• MyVariant Identifiers: chr5:g.135489915G>A (hg19) ; chr5:g.136154226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154226G>A , CM000667.2:g.136154226G>A	GRCh38
NC_000005.9:g.135489915G>A , CM000667.1:g.135489915G>A	GRCh37
NC_000005.8:g.135517814G>A	NCBI36
NG_032037.1:g.26380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.403+63G>A	ENSP00000426696.2:n.403+63G>A
ENST00000545279.6:c.403+63G>A MANE Select	ENSP00000441954.2:n.403+63G>A
ENST00000514777.1:n.60-18208G>A
ENST00000545279.5:c.403+63G>A	ENSP00000441954.2:n.403+63G>A
ENST00000545620.5:c.403+63G>A	ENSP00000446474.2:n.403+63G>A
NM_001001419.2:c.403+63G>A	NP_001001419.1:n.403+63G>A
NM_001001420.2:c.403+63G>A	NP_001001420.1:n.403+63G>A
NM_005903.6:c.403+63G>A	NP_005894.3:n.403+63G>A
XR_948810.1:n.1973+1201C>T
XM_017009470.2:c.403+63G>A	XP_016864959.1:n.403+63G>A
XM_024446046.1:c.403+63G>A	XP_024301814.1:n.403+63G>A
XM_024446047.1:c.403+63G>A	XP_024301815.1:n.403+63G>A
NM_005903.7:c.403+63G>A MANE Select	NP_005894.3:n.403+63G>A
NM_001001419.3:c.403+63G>A	NP_001001419.1:n.403+63G>A
NM_001001420.3:c.403+63G>A	NP_001001420.1:n.403+63G>A