Canonical Allele Identifier: CA446552107

Gene: SMAD5

Linked Data

• gnomAD v4: 5-136172598-T-C
• MyVariant Identifiers: chr5:g.135508287T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000509297.6:c.940T>C	ENSP00000426696.2:p.Leu314=
ENST00000545279.6:c.940T>C MANE Select	ENSP00000441954.2:p.Leu314=
ENST00000507637.1:c.407T>C
ENST00000514777.1:n.224T>C
ENST00000545279.5:c.940T>C	ENSP00000441954.2:p.Leu314=
ENST00000545620.5:c.940T>C	ENSP00000446474.2:p.Leu314=
NM_001001419.2:c.940T>C	NP_001001419.1:p.Leu314=
NM_001001420.2:c.940T>C	NP_001001420.1:p.Leu314=
NM_005903.6:c.940T>C	NP_005894.3:p.Leu314=
XM_017009470.2:c.940T>C	XP_016864959.1:p.Leu314=
XM_024446046.1:c.940T>C	XP_024301814.1:p.Leu314=
XM_024446047.1:c.940T>C	XP_024301815.1:p.Leu314=
NM_005903.7:c.940T>C MANE Select	NP_005894.3:p.Leu314=
NM_001001419.3:c.940T>C	NP_001001419.1:p.Leu314=
NM_001001420.3:c.940T>C	NP_001001420.1:p.Leu314=