Canonical Allele Identifier: CA393201734

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073424G>A (hg19) ; chr15:g.66781086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781086G>A , CM000677.2:g.66781086G>A	GRCh38
NC_000015.9:g.67073424G>A , CM000677.1:g.67073424G>A	GRCh37
NC_000015.8:g.64860478G>A	NCBI36
NG_012244.1:g.83751G>A
NG_012244.2:g.83751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1042G>A MANE Select	ENSP00000288840.5:p.Ala348Thr
ENST00000288840.9:c.1042G>A	ENSP00000288840.5:p.Ala348Thr
ENST00000557916.5:c.1174G>A	ENSP00000452955.1:n.1174G>A
ENST00000559931.5:c.346G>A	ENSP00000453446.1:n.346G>A
NM_005585.4:c.1042G>A	NP_005576.3:p.Ala348Thr
NR_027654.1:n.2097G>A
XM_011521561.1:c.259G>A	XP_011519863.1:p.Ala87Thr
XR_931825.1:n.2441G>A
XM_011521561.2:c.259G>A	XP_011519863.1:p.Ala87Thr
NM_005585.5:c.1042G>A MANE Select	NP_005576.3:p.Ala348Thr
NR_027654.2:n.2197G>A