Canonical Allele Identifier: CA12075135

Gene: SMAD5

Linked Data

• dbSNP Id: rs3206634
• gnomAD v2: 5-135516203-T-C
• gnomAD v3: 5-136180515-T-C
• gnomAD v4: 5-136180515-T-C
• MyVariant Identifiers: chr5:g.135516203T>C (hg19) ; chr5:g.136180515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136180515T>C , CM000667.2:g.136180515T>C	GRCh38
NC_000005.9:g.135516203T>C , CM000667.1:g.135516203T>C	GRCh37
NC_000005.8:g.135544102T>C	NCBI36
NG_032037.1:g.52669T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545279.6:c.*3035T>C MANE Select	ENSP00000441954.2:n.*3035T>C
ENST00000513418.1:c.164+5883T>C
ENST00000545279.5:c.*3035T>C	ENSP00000441954.2:n.*3035T>C
ENST00000545620.5:c.*3035T>C	ENSP00000446474.2:n.*3035T>C
NM_001001419.2:c.*3035T>C	NP_001001419.1:n.*3035T>C
NM_001001420.2:c.*3035T>C	NP_001001420.1:n.*3035T>C
NM_005903.6:c.*3035T>C	NP_005894.3:n.*3035T>C
XM_017009470.2:c.*3035T>C	XP_016864959.1:n.*3035T>C
XM_024446046.1:c.*3035T>C	XP_024301814.1:n.*3035T>C
XM_024446047.1:c.*3035T>C	XP_024301815.1:n.*3035T>C
NM_005903.7:c.*3035T>C MANE Select	NP_005894.3:n.*3035T>C
NM_001001419.3:c.*3035T>C	NP_001001419.1:n.*3035T>C
NM_001001420.3:c.*3035T>C	NP_001001420.1:n.*3035T>C