Canonical Allele Identifier: CA393201633

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1981384
• ClinVar RCV Id: RCV002780509
• MyVariant Identifiers: chr15:g.67073375G>C (hg19) ; chr15:g.66781037G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781037G>C , CM000677.2:g.66781037G>C	GRCh38
NC_000015.9:g.67073375G>C , CM000677.1:g.67073375G>C	GRCh37
NC_000015.8:g.64860429G>C	NCBI36
NG_012244.1:g.83702G>C
NG_012244.2:g.83702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.993G>C MANE Select	ENSP00000288840.5:p.Trp331Cys
ENST00000288840.9:c.993G>C	ENSP00000288840.5:p.Trp331Cys
ENST00000557916.5:c.1125G>C	ENSP00000452955.1:n.1125G>C
ENST00000559931.5:c.297G>C	ENSP00000453446.1:n.297G>C
NM_005585.4:c.993G>C	NP_005576.3:p.Trp331Cys
NR_027654.1:n.2048G>C
XM_011521561.1:c.210G>C	XP_011519863.1:p.Trp70Cys
XR_931825.1:n.2392G>C
XM_011521561.2:c.210G>C	XP_011519863.1:p.Trp70Cys
NM_005585.5:c.993G>C MANE Select	NP_005576.3:p.Trp331Cys
NR_027654.2:n.2148G>C