Canonical Allele Identifier: CA128079717

Gene: SMAD5

Linked Data

• dbSNP Id: rs991203834
• gnomAD v3: 5-136181559-T-A
• gnomAD v4: 5-136181559-T-A
• MyVariant Identifiers: chr5:g.135517247T>A (hg19) ; chr5:g.136181559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136181559T>A , CM000667.2:g.136181559T>A	GRCh38
NC_000005.9:g.135517247T>A , CM000667.1:g.135517247T>A	GRCh37
NC_000005.8:g.135545146T>A	NCBI36
NG_032037.1:g.53713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545279.6:c.*4079T>A MANE Select	ENSP00000441954.2:n.*4079T>A
ENST00000513418.1:c.165-5602T>A
ENST00000545279.5:c.*4079T>A	ENSP00000441954.2:n.*4079T>A
ENST00000545620.5:c.*4079T>A	ENSP00000446474.2:n.*4079T>A
NM_001001419.2:c.*4079T>A	NP_001001419.1:n.*4079T>A
NM_001001420.2:c.*4079T>A	NP_001001420.1:n.*4079T>A
NM_005903.6:c.*4079T>A	NP_005894.3:n.*4079T>A
XM_017009470.2:c.*4079T>A	XP_016864959.1:n.*4079T>A
XM_024446046.1:c.*4079T>A	XP_024301814.1:n.*4079T>A
XM_024446047.1:c.*4079T>A	XP_024301815.1:n.*4079T>A
NM_005903.7:c.*4079T>A MANE Select	NP_005894.3:n.*4079T>A
NM_001001419.3:c.*4079T>A	NP_001001419.1:n.*4079T>A
NM_001001420.3:c.*4079T>A	NP_001001420.1:n.*4079T>A