Canonical Allele Identifier: CA393201812

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1785145
• ClinVar RCV Id: RCV002421894
• MyVariant Identifiers: chr15:g.67073459C>G (hg19) ; chr15:g.66781121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781121C>G , CM000677.2:g.66781121C>G	GRCh38
NC_000015.9:g.67073459C>G , CM000677.1:g.67073459C>G	GRCh37
NC_000015.8:g.64860513C>G	NCBI36
NG_012244.1:g.83786C>G
NG_012244.2:g.83786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1077C>G MANE Select	ENSP00000288840.5:p.Asp359Glu
ENST00000288840.9:c.1077C>G	ENSP00000288840.5:p.Asp359Glu
ENST00000557916.5:c.1209C>G	ENSP00000452955.1:n.1209C>G
ENST00000559931.5:c.381C>G	ENSP00000453446.1:n.381C>G
NM_005585.4:c.1077C>G	NP_005576.3:p.Asp359Glu
NR_027654.1:n.2132C>G
XM_011521561.1:c.294C>G	XP_011519863.1:p.Asp98Glu
XR_931825.1:n.2476C>G
XM_011521561.2:c.294C>G	XP_011519863.1:p.Asp98Glu
NM_005585.5:c.1077C>G MANE Select	NP_005576.3:p.Asp359Glu
NR_027654.2:n.2232C>G