Canonical Allele Identifier: CA1584851888

Gene: SMAD5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136180020A= , CM000667.2:g.136180020A=	GRCh38
NC_000005.9:g.135515708A= , CM000667.1:g.135515708A=	GRCh37
NC_000005.8:g.135543607A=	NCBI36
NG_032037.1:g.52174A=

Transcript Alleles

HGVS	Amino-acid Change
NM_005903.7:c.*2540A= MANE Select	NP_005894.3:n.*2540A=
ENST00000545279.6:c.*2540A= MANE Select	ENSP00000441954.2:n.*2540A=
NM_001001419.2:c.*2540A=	NP_001001419.1:n.*2540A=
NM_001001419.3:c.*2540A=	NP_001001419.1:n.*2540A=
NM_001001420.2:c.*2540A=	NP_001001420.1:n.*2540A=
NM_001001420.3:c.*2540A=	NP_001001420.1:n.*2540A=
NM_005903.6:c.*2540A=	NP_005894.3:n.*2540A=
ENST00000513418.1:c.164+5388A=
ENST00000545279.5:c.*2540A=	ENSP00000441954.2:n.*2540A=
ENST00000545620.5:c.*2540A=	ENSP00000446474.2:n.*2540A=
XM_017009470.2:c.*2540A=	XP_016864959.1:n.*2540A=
XM_024446046.1:c.*2540A=	XP_024301814.1:n.*2540A=
XM_024446047.1:c.*2540A=	XP_024301815.1:n.*2540A=