Canonical Allele Identifier: CA7626706

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1782218
• ClinVar RCV Id: RCV002408173 ; RCV003533243
• dbSNP Id: rs371677565
• ExAC: 15:67073387 G / A
• gnomAD v2: 15-67073387-G-A
• gnomAD v3: 15-66781049-G-A
• gnomAD v4: 15-66781049-G-A
• MyVariant Identifiers: chr15:g.67073387G>A (hg19) ; chr15:g.66781049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781049G>A , CM000677.2:g.66781049G>A	GRCh38
NC_000015.9:g.67073387G>A , CM000677.1:g.67073387G>A	GRCh37
NC_000015.8:g.64860441G>A	NCBI36
NG_012244.1:g.83714G>A
NG_012244.2:g.83714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1005G>A MANE Select	ENSP00000288840.5:p.Ala335=
ENST00000288840.9:c.1005G>A	ENSP00000288840.5:p.Ala335=
ENST00000557916.5:c.1137G>A	ENSP00000452955.1:n.1137G>A
ENST00000559931.5:c.309G>A	ENSP00000453446.1:n.309G>A
NM_005585.4:c.1005G>A	NP_005576.3:p.Ala335=
NR_027654.1:n.2060G>A
XM_011521561.1:c.222G>A	XP_011519863.1:p.Ala74=
XR_931825.1:n.2404G>A
XM_011521561.2:c.222G>A	XP_011519863.1:p.Ala74=
NM_005585.5:c.1005G>A MANE Select	NP_005576.3:p.Ala335=
NR_027654.2:n.2160G>A