Canonical Allele Identifier: CA1584824312

Gene: SMAD5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136135345T= , CM000667.2:g.136135345T=	GRCh38
NC_000005.9:g.135471034T= , CM000667.1:g.135471034T=	GRCh37
NC_000005.8:g.135498933T=	NCBI36
NG_032037.1:g.7499T=

Transcript Alleles

HGVS	Amino-acid Change
NM_005903.7:c.-245+2383T= MANE Select	NP_005894.3:n.-245+2383T=
ENST00000545279.6:c.-245+2383T= MANE Select	ENSP00000441954.2:n.-245+2383T=
NM_001001419.2:c.-329+2383T=	NP_001001419.1:n.-329+2383T=
NM_001001419.3:c.-329+2383T=	NP_001001419.1:n.-329+2383T=
NM_001001420.2:c.-170+2383T=	NP_001001420.1:n.-170+2383T=
NM_001001420.3:c.-170+2383T=	NP_001001420.1:n.-170+2383T=
NM_005903.6:c.-245+2383T=	NP_005894.3:n.-245+2383T=
ENST00000506223.1:c.-170+1386T=	ENSP00000422954.1:n.-170+1386T=
ENST00000507118.5:c.-170+2383T=	ENSP00000425749.1:n.-170+2383T=
ENST00000509297.5:c.-245+1386T=	ENSP00000426696.1:n.-245+1386T=
ENST00000509297.6:c.-245+1386T=	ENSP00000426696.2:n.-245+1386T=
ENST00000509962.5:n.250+1872T=
ENST00000511116.5:c.-329+2383T=	ENSP00000424279.1:n.-329+2383T=
ENST00000514777.1:n.59+2383T=
ENST00000515005.1:c.-245+1872T=	ENSP00000427330.1:n.-245+1872T=
ENST00000545279.5:c.-245+2383T=	ENSP00000441954.2:n.-245+2383T=
ENST00000545620.5:c.-170+2383T=	ENSP00000446474.2:n.-170+2383T=
XM_017009470.2:c.-329+1872T=	XP_016864959.1:n.-329+1872T=
XM_024446046.1:c.-245+1872T=	XP_024301814.1:n.-245+1872T=
XM_024446047.1:c.-245+1386T=	XP_024301815.1:n.-245+1386T=