Canonical Allele Identifier: CA2675403325

Gene: SMAD5

Linked Data

• gnomAD v4: 5-136181472-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136181472T>G , CM000667.2:g.136181472T>G	GRCh38
NC_000005.9:g.135517160T>G , CM000667.1:g.135517160T>G	GRCh37
NC_000005.8:g.135545059T>G	NCBI36
NG_032037.1:g.53626T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545279.6:c.*3992T>G MANE Select	ENSP00000441954.2:n.*3992T>G
ENST00000513418.1:c.165-5689T>G
ENST00000545279.5:c.*3992T>G	ENSP00000441954.2:n.*3992T>G
ENST00000545620.5:c.*3992T>G	ENSP00000446474.2:n.*3992T>G
NM_001001419.2:c.*3992T>G	NP_001001419.1:n.*3992T>G
NM_001001420.2:c.*3992T>G	NP_001001420.1:n.*3992T>G
NM_005903.6:c.*3992T>G	NP_005894.3:n.*3992T>G
XM_017009470.2:c.*3992T>G	XP_016864959.1:n.*3992T>G
XM_024446046.1:c.*3992T>G	XP_024301814.1:n.*3992T>G
XM_024446047.1:c.*3992T>G	XP_024301815.1:n.*3992T>G
NM_005903.7:c.*3992T>G MANE Select	NP_005894.3:n.*3992T>G
NM_001001419.3:c.*3992T>G	NP_001001419.1:n.*3992T>G
NM_001001420.3:c.*3992T>G	NP_001001420.1:n.*3992T>G