Canonical Allele Identifier: CA361039117

Gene: SMAD5

Linked Data

• MyVariant Identifiers: chr5:g.135508287T>A (hg19) ; chr5:g.136172598T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136172598T>A , CM000667.2:g.136172598T>A	GRCh38
NC_000005.9:g.135508287T>A , CM000667.1:g.135508287T>A	GRCh37
NC_000005.8:g.135536186T>A	NCBI36
NG_032037.1:g.44752T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.940T>A	ENSP00000426696.2:p.Leu314Met
ENST00000545279.6:c.940T>A MANE Select	ENSP00000441954.2:p.Leu314Met
ENST00000507637.1:c.407T>A
ENST00000514777.1:n.224T>A
ENST00000545279.5:c.940T>A	ENSP00000441954.2:p.Leu314Met
ENST00000545620.5:c.940T>A	ENSP00000446474.2:p.Leu314Met
NM_001001419.2:c.940T>A	NP_001001419.1:p.Leu314Met
NM_001001420.2:c.940T>A	NP_001001420.1:p.Leu314Met
NM_005903.6:c.940T>A	NP_005894.3:p.Leu314Met
XM_017009470.2:c.940T>A	XP_016864959.1:p.Leu314Met
XM_024446046.1:c.940T>A	XP_024301814.1:p.Leu314Met
XM_024446047.1:c.940T>A	XP_024301815.1:p.Leu314Met
NM_005903.7:c.940T>A MANE Select	NP_005894.3:p.Leu314Met
NM_001001419.3:c.940T>A	NP_001001419.1:p.Leu314Met
NM_001001420.3:c.940T>A	NP_001001420.1:p.Leu314Met