Canonical Allele Identifier: CA393201852

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781140-T-A
• MyVariant Identifiers: chr15:g.67073478T>A (hg19) ; chr15:g.66781140T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781140T>A , CM000677.2:g.66781140T>A	GRCh38
NC_000015.9:g.67073478T>A , CM000677.1:g.67073478T>A	GRCh37
NC_000015.8:g.64860532T>A	NCBI36
NG_012244.1:g.83805T>A
NG_012244.2:g.83805T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1096T>A MANE Select	ENSP00000288840.5:p.Phe366Ile
ENST00000288840.9:c.1096T>A	ENSP00000288840.5:p.Phe366Ile
ENST00000557916.5:c.1228T>A	ENSP00000452955.1:n.1228T>A
ENST00000559931.5:c.400T>A	ENSP00000453446.1:n.400T>A
NM_005585.4:c.1096T>A	NP_005576.3:p.Phe366Ile
NR_027654.1:n.2151T>A
XM_011521561.1:c.313T>A	XP_011519863.1:p.Phe105Ile
XR_931825.1:n.2495T>A
XM_011521561.2:c.313T>A	XP_011519863.1:p.Phe105Ile
NM_005585.5:c.1096T>A MANE Select	NP_005576.3:p.Phe366Ile
NR_027654.2:n.2251T>A