Canonical Allele Identifier: CA563248332

Gene: SMAD5

Linked Data

• dbSNP Id: rs1304399130
• gnomAD v2: 5-135489873-G-A
• gnomAD v4: 5-136154184-G-A
• MyVariant Identifiers: chr5:g.135489873G>A (hg19) ; chr5:g.136154184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154184G>A , CM000667.2:g.136154184G>A	GRCh38
NC_000005.9:g.135489873G>A , CM000667.1:g.135489873G>A	GRCh37
NC_000005.8:g.135517772G>A	NCBI36
NG_032037.1:g.26338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.403+21G>A	ENSP00000426696.2:n.403+21G>A
ENST00000545279.6:c.403+21G>A MANE Select	ENSP00000441954.2:n.403+21G>A
ENST00000514777.1:n.60-18250G>A
ENST00000545279.5:c.403+21G>A	ENSP00000441954.2:n.403+21G>A
ENST00000545620.5:c.403+21G>A	ENSP00000446474.2:n.403+21G>A
NM_001001419.2:c.403+21G>A	NP_001001419.1:n.403+21G>A
NM_001001420.2:c.403+21G>A	NP_001001420.1:n.403+21G>A
NM_005903.6:c.403+21G>A	NP_005894.3:n.403+21G>A
XR_948810.1:n.1973+1243C>T
XM_017009470.2:c.403+21G>A	XP_016864959.1:n.403+21G>A
XM_024446046.1:c.403+21G>A	XP_024301814.1:n.403+21G>A
XM_024446047.1:c.403+21G>A	XP_024301815.1:n.403+21G>A
NM_005903.7:c.403+21G>A MANE Select	NP_005894.3:n.403+21G>A
NM_001001419.3:c.403+21G>A	NP_001001419.1:n.403+21G>A
NM_001001420.3:c.403+21G>A	NP_001001420.1:n.403+21G>A