Canonical Allele Identifier: CA2629100854

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703219-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703219A>C , CM000677.2:g.66703219A>C	GRCh38
NC_000015.9:g.66995557A>C , CM000677.1:g.66995557A>C	GRCh37
NC_000015.8:g.64782611A>C	NCBI36
NG_012244.1:g.5884A>C
NG_012244.2:g.5884A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-40A>C MANE Select	ENSP00000288840.5:n.-40A>C
ENST00000288840.9:c.-40A>C	ENSP00000288840.5:n.-40A>C
ENST00000612349.1:n.143A>C
NM_005585.4:c.-40A>C	NP_005576.3:n.-40A>C
NR_027654.1:n.884A>C
XR_931825.1:n.1120A>C
XR_931826.1:n.1120A>C
XR_931827.1:n.1120A>C
XR_931827.2:n.1110A>C
NM_005585.5:c.-40A>C MANE Select	NP_005576.3:n.-40A>C
NR_027654.2:n.984A>C