Canonical Allele Identifier: CA2675403326

Gene: SMAD5

Linked Data

• gnomAD v4: 5-136181480-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136181480G>T , CM000667.2:g.136181480G>T	GRCh38
NC_000005.9:g.135517168G>T , CM000667.1:g.135517168G>T	GRCh37
NC_000005.8:g.135545067G>T	NCBI36
NG_032037.1:g.53634G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545279.6:c.*4000G>T MANE Select	ENSP00000441954.2:n.*4000G>T
ENST00000513418.1:c.165-5681G>T
ENST00000545279.5:c.*4000G>T	ENSP00000441954.2:n.*4000G>T
ENST00000545620.5:c.*4000G>T	ENSP00000446474.2:n.*4000G>T
NM_001001419.2:c.*4000G>T	NP_001001419.1:n.*4000G>T
NM_001001420.2:c.*4000G>T	NP_001001420.1:n.*4000G>T
NM_005903.6:c.*4000G>T	NP_005894.3:n.*4000G>T
XM_017009470.2:c.*4000G>T	XP_016864959.1:n.*4000G>T
XM_024446046.1:c.*4000G>T	XP_024301814.1:n.*4000G>T
XM_024446047.1:c.*4000G>T	XP_024301815.1:n.*4000G>T
NM_005903.7:c.*4000G>T MANE Select	NP_005894.3:n.*4000G>T
NM_001001419.3:c.*4000G>T	NP_001001419.1:n.*4000G>T
NM_001001420.3:c.*4000G>T	NP_001001420.1:n.*4000G>T