Canonical Allele Identifier: CA393201980

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781202G>T , CM000677.2:g.66781202G>T	GRCh38
NC_000015.9:g.67073540G>T , CM000677.1:g.67073540G>T	GRCh37
NC_000015.8:g.64860594G>T	NCBI36
NG_012244.1:g.83867G>T
NG_012244.2:g.83867G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005585.5:c.1158G>T MANE Select	NP_005576.3:p.Lys386Asn
ENST00000288840.10:c.1158G>T MANE Select	ENSP00000288840.5:p.Lys386Asn
NM_005585.4:c.1158G>T	NP_005576.3:p.Lys386Asn
NR_027654.1:n.2213G>T
NR_027654.2:n.2313G>T
ENST00000288840.9:c.1158G>T	ENSP00000288840.5:p.Lys386Asn
ENST00000557916.5:c.1290G>T	ENSP00000452955.1:n.1290G>T
ENST00000559931.5:c.462G>T	ENSP00000453446.1:n.462G>T
XM_011521561.1:c.375G>T	XP_011519863.1:p.Lys125Asn
XM_011521561.2:c.375G>T	XP_011519863.1:p.Lys125Asn
XR_931825.1:n.2557G>T