Canonical Allele Identifier: CA393201834

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 3224783
• ClinVar RCV Id: RCV004521473
• MyVariant Identifiers: chr15:g.67073469G>A (hg19) ; chr15:g.66781131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781131G>A , CM000677.2:g.66781131G>A	GRCh38
NC_000015.9:g.67073469G>A , CM000677.1:g.67073469G>A	GRCh37
NC_000015.8:g.64860523G>A	NCBI36
NG_012244.1:g.83796G>A
NG_012244.2:g.83796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1087G>A MANE Select	ENSP00000288840.5:p.Gly363Ser
ENST00000288840.9:c.1087G>A	ENSP00000288840.5:p.Gly363Ser
ENST00000557916.5:c.1219G>A	ENSP00000452955.1:n.1219G>A
ENST00000559931.5:c.391G>A	ENSP00000453446.1:n.391G>A
NM_005585.4:c.1087G>A	NP_005576.3:p.Gly363Ser
NR_027654.1:n.2142G>A
XM_011521561.1:c.304G>A	XP_011519863.1:p.Gly102Ser
XR_931825.1:n.2486G>A
XM_011521561.2:c.304G>A	XP_011519863.1:p.Gly102Ser
NM_005585.5:c.1087G>A MANE Select	NP_005576.3:p.Gly363Ser
NR_027654.2:n.2242G>A