Canonical Allele Identifier: CA490907674

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703265-A-C
• MyVariant Identifiers: chr15:g.66995603A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703265A>C , CM000677.2:g.66703265A>C	GRCh38
NC_000015.9:g.66995603A>C , CM000677.1:g.66995603A>C	GRCh37
NC_000015.8:g.64782657A>C	NCBI36
NG_012244.1:g.5930A>C
NG_012244.2:g.5930A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.7A>C MANE Select	ENSP00000288840.5:p.Arg3=
ENST00000288840.9:c.7A>C	ENSP00000288840.5:p.Arg3=
ENST00000557916.5:c.7A>C	ENSP00000452955.1:p.Arg3=
ENST00000612349.1:n.189A>C
NM_005585.4:c.7A>C	NP_005576.3:p.Arg3=
NR_027654.1:n.930A>C
XR_931825.1:n.1166A>C
XR_931826.1:n.1166A>C
XR_931827.1:n.1166A>C
XR_931827.2:n.1156A>C
NM_005585.5:c.7A>C MANE Select	NP_005576.3:p.Arg3=
NR_027654.2:n.1030A>C