Canonical Allele Identifier: CA272023368

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 3166240
• ClinVar RCV Id: RCV004459641
• dbSNP Id: rs962194182
• MyVariant Identifiers: chr15:g.67073494T>G (hg19) ; chr15:g.66781156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781156T>G , CM000677.2:g.66781156T>G	GRCh38
NC_000015.9:g.67073494T>G , CM000677.1:g.67073494T>G	GRCh37
NC_000015.8:g.64860548T>G	NCBI36
NG_012244.1:g.83821T>G
NG_012244.2:g.83821T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1112T>G MANE Select	ENSP00000288840.5:p.Leu371Arg
ENST00000288840.9:c.1112T>G	ENSP00000288840.5:p.Leu371Arg
ENST00000557916.5:c.1244T>G	ENSP00000452955.1:n.1244T>G
ENST00000559931.5:c.416T>G	ENSP00000453446.1:n.416T>G
NM_005585.4:c.1112T>G	NP_005576.3:p.Leu371Arg
NR_027654.1:n.2167T>G
XM_011521561.1:c.329T>G	XP_011519863.1:p.Leu110Arg
XR_931825.1:n.2511T>G
XM_011521561.2:c.329T>G	XP_011519863.1:p.Leu110Arg
NM_005585.5:c.1112T>G MANE Select	NP_005576.3:p.Leu371Arg
NR_027654.2:n.2267T>G