Canonical Allele Identifier: CA393201846

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 916571
• ClinVar RCV Id: RCV001172302
• dbSNP Id: rs1176080464
• gnomAD v2: 15-67073475-G-A
• gnomAD v4: 15-66781137-G-A
• MyVariant Identifiers: chr15:g.67073475G>A (hg19) ; chr15:g.66781137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781137G>A , CM000677.2:g.66781137G>A	GRCh38
NC_000015.9:g.67073475G>A , CM000677.1:g.67073475G>A	GRCh37
NC_000015.8:g.64860529G>A	NCBI36
NG_012244.1:g.83802G>A
NG_012244.2:g.83802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1093G>A MANE Select	ENSP00000288840.5:p.Gly365Ser
ENST00000288840.9:c.1093G>A	ENSP00000288840.5:p.Gly365Ser
ENST00000557916.5:c.1225G>A	ENSP00000452955.1:n.1225G>A
ENST00000559931.5:c.397G>A	ENSP00000453446.1:n.397G>A
NM_005585.4:c.1093G>A	NP_005576.3:p.Gly365Ser
NR_027654.1:n.2148G>A
XM_011521561.1:c.310G>A	XP_011519863.1:p.Gly104Ser
XR_931825.1:n.2492G>A
XM_011521561.2:c.310G>A	XP_011519863.1:p.Gly104Ser
NM_005585.5:c.1093G>A MANE Select	NP_005576.3:p.Gly365Ser
NR_027654.2:n.2248G>A