Canonical Allele Identifier: CA128074669

Gene: SMAD5

Linked Data

• dbSNP Id: rs374065440
• MyVariant Identifiers: chr5:g.135508292A>G (hg19) ; chr5:g.136172603A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136172603A>G , CM000667.2:g.136172603A>G	GRCh38
NC_000005.9:g.135508292A>G , CM000667.1:g.135508292A>G	GRCh37
NC_000005.8:g.135536191A>G	NCBI36
NG_032037.1:g.44757A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509297.6:c.945A>G	ENSP00000426696.2:p.Ser315=
ENST00000545279.6:c.945A>G MANE Select	ENSP00000441954.2:p.Ser315=
ENST00000507637.1:c.412A>G
ENST00000514777.1:n.229A>G
ENST00000545279.5:c.945A>G	ENSP00000441954.2:p.Ser315=
ENST00000545620.5:c.945A>G	ENSP00000446474.2:p.Ser315=
NM_001001419.2:c.945A>G	NP_001001419.1:p.Ser315=
NM_001001420.2:c.945A>G	NP_001001420.1:p.Ser315=
NM_005903.6:c.945A>G	NP_005894.3:p.Ser315=
XM_017009470.2:c.945A>G	XP_016864959.1:p.Ser315=
XM_024446046.1:c.945A>G	XP_024301814.1:p.Ser315=
XM_024446047.1:c.945A>G	XP_024301815.1:p.Ser315=
NM_005903.7:c.945A>G MANE Select	NP_005894.3:p.Ser315=
NM_001001419.3:c.945A>G	NP_001001419.1:p.Ser315=
NM_001001420.3:c.945A>G	NP_001001420.1:p.Ser315=