Canonical Allele Identifier: CA2675403209

Gene: SMAD5

Linked Data

• gnomAD v4: 5-136180567-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136180567G>A , CM000667.2:g.136180567G>A	GRCh38
NC_000005.9:g.135516255G>A , CM000667.1:g.135516255G>A	GRCh37
NC_000005.8:g.135544154G>A	NCBI36
NG_032037.1:g.52721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545279.6:c.*3087G>A MANE Select	ENSP00000441954.2:n.*3087G>A
ENST00000513418.1:c.164+5935G>A
ENST00000545279.5:c.*3087G>A	ENSP00000441954.2:n.*3087G>A
ENST00000545620.5:c.*3087G>A	ENSP00000446474.2:n.*3087G>A
NM_001001419.2:c.*3087G>A	NP_001001419.1:n.*3087G>A
NM_001001420.2:c.*3087G>A	NP_001001420.1:n.*3087G>A
NM_005903.6:c.*3087G>A	NP_005894.3:n.*3087G>A
XM_017009470.2:c.*3087G>A	XP_016864959.1:n.*3087G>A
XM_024446046.1:c.*3087G>A	XP_024301814.1:n.*3087G>A
XM_024446047.1:c.*3087G>A	XP_024301815.1:n.*3087G>A
NM_005903.7:c.*3087G>A MANE Select	NP_005894.3:n.*3087G>A
NM_001001419.3:c.*3087G>A	NP_001001419.1:n.*3087G>A
NM_001001420.3:c.*3087G>A	NP_001001420.1:n.*3087G>A