Canonical Allele Identifier: CA392948245

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 2329833
• ClinVar RCV Id: RCV002916648
• gnomAD v4: 15-66703267-G-T
• MyVariant Identifiers: chr15:g.66995605G>T (hg19) ; chr15:g.66703267G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703267G>T , CM000677.2:g.66703267G>T	GRCh38
NC_000015.9:g.66995605G>T , CM000677.1:g.66995605G>T	GRCh37
NC_000015.8:g.64782659G>T	NCBI36
NG_012244.1:g.5932G>T
NG_012244.2:g.5932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.9G>T MANE Select	ENSP00000288840.5:p.Arg3Ser
ENST00000288840.9:c.9G>T	ENSP00000288840.5:p.Arg3Ser
ENST00000557916.5:c.9G>T	ENSP00000452955.1:p.Arg3Ser
ENST00000612349.1:n.191G>T
NM_005585.4:c.9G>T	NP_005576.3:p.Arg3Ser
NR_027654.1:n.932G>T
XR_931825.1:n.1168G>T
XR_931826.1:n.1168G>T
XR_931827.1:n.1168G>T
XR_931827.2:n.1158G>T
NM_005585.5:c.9G>T MANE Select	NP_005576.3:p.Arg3Ser
NR_027654.2:n.1032G>T