Canonical Allele Identifier: CA563244755

Gene: SMAD5

Linked Data

• dbSNP Id: rs1295650507
• gnomAD v2: 5-135516281-C-T
• gnomAD v3: 5-136180593-C-T
• gnomAD v4: 5-136180593-C-T
• MyVariant Identifiers: chr5:g.135516281C>T (hg19) ; chr5:g.136180593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136180593C>T , CM000667.2:g.136180593C>T	GRCh38
NC_000005.9:g.135516281C>T , CM000667.1:g.135516281C>T	GRCh37
NC_000005.8:g.135544180C>T	NCBI36
NG_032037.1:g.52747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545279.6:c.*3113C>T MANE Select	ENSP00000441954.2:n.*3113C>T
ENST00000513418.1:c.164+5961C>T
ENST00000545279.5:c.*3113C>T	ENSP00000441954.2:n.*3113C>T
ENST00000545620.5:c.*3113C>T	ENSP00000446474.2:n.*3113C>T
NM_001001419.2:c.*3113C>T	NP_001001419.1:n.*3113C>T
NM_001001420.2:c.*3113C>T	NP_001001420.1:n.*3113C>T
NM_005903.6:c.*3113C>T	NP_005894.3:n.*3113C>T
XM_017009470.2:c.*3113C>T	XP_016864959.1:n.*3113C>T
XM_024446046.1:c.*3113C>T	XP_024301814.1:n.*3113C>T
XM_024446047.1:c.*3113C>T	XP_024301815.1:n.*3113C>T
NM_005903.7:c.*3113C>T MANE Select	NP_005894.3:n.*3113C>T
NM_001001419.3:c.*3113C>T	NP_001001419.1:n.*3113C>T
NM_001001420.3:c.*3113C>T	NP_001001420.1:n.*3113C>T