Canonical Allele Identifier: CA393201870

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1399143
• ClinVar RCV Id: RCV001915407
• dbSNP Id: rs1294873185
• gnomAD v2: 15-67073487-G-A
• gnomAD v4: 15-66781149-G-A
• MyVariant Identifiers: chr15:g.67073487G>A (hg19) ; chr15:g.66781149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781149G>A , CM000677.2:g.66781149G>A	GRCh38
NC_000015.9:g.67073487G>A , CM000677.1:g.67073487G>A	GRCh37
NC_000015.8:g.64860541G>A	NCBI36
NG_012244.1:g.83814G>A
NG_012244.2:g.83814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1105G>A MANE Select	ENSP00000288840.5:p.Gly369Ser
ENST00000288840.9:c.1105G>A	ENSP00000288840.5:p.Gly369Ser
ENST00000557916.5:c.1237G>A	ENSP00000452955.1:n.1237G>A
ENST00000559931.5:c.409G>A	ENSP00000453446.1:n.409G>A
NM_005585.4:c.1105G>A	NP_005576.3:p.Gly369Ser
NR_027654.1:n.2160G>A
XM_011521561.1:c.322G>A	XP_011519863.1:p.Gly108Ser
XR_931825.1:n.2504G>A
XM_011521561.2:c.322G>A	XP_011519863.1:p.Gly108Ser
NM_005585.5:c.1105G>A MANE Select	NP_005576.3:p.Gly369Ser
NR_027654.2:n.2260G>A