Canonical Allele Identifier: CA1584853137

Gene: SMAD5

Linked Data

• dbSNP Id: rs1580811637

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136181510T>C , CM000667.2:g.136181510T>C	GRCh38
NC_000005.9:g.135517198T>C , CM000667.1:g.135517198T>C	GRCh37
NC_000005.8:g.135545097T>C	NCBI36
NG_032037.1:g.53664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545279.6:c.*4030T>C MANE Select	ENSP00000441954.2:n.*4030T>C
ENST00000513418.1:c.165-5651T>C
ENST00000545279.5:c.*4030T>C	ENSP00000441954.2:n.*4030T>C
ENST00000545620.5:c.*4030T>C	ENSP00000446474.2:n.*4030T>C
NM_001001419.2:c.*4030T>C	NP_001001419.1:n.*4030T>C
NM_001001420.2:c.*4030T>C	NP_001001420.1:n.*4030T>C
NM_005903.6:c.*4030T>C	NP_005894.3:n.*4030T>C
XM_017009470.2:c.*4030T>C	XP_016864959.1:n.*4030T>C
XM_024446046.1:c.*4030T>C	XP_024301814.1:n.*4030T>C
XM_024446047.1:c.*4030T>C	XP_024301815.1:n.*4030T>C
NM_005903.7:c.*4030T>C MANE Select	NP_005894.3:n.*4030T>C
NM_001001419.3:c.*4030T>C	NP_001001419.1:n.*4030T>C
NM_001001420.3:c.*4030T>C	NP_001001420.1:n.*4030T>C