Canonical Allele Identifier: CA393202156

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781288C>A , CM000677.2:g.66781288C>A	GRCh38
NC_000015.9:g.67073626C>A , CM000677.1:g.67073626C>A	GRCh37
NC_000015.8:g.64860680C>A	NCBI36
NG_012244.1:g.83953C>A
NG_012244.2:g.83953C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005585.5:c.1244C>A MANE Select	NP_005576.3:p.Pro415Gln
ENST00000288840.10:c.1244C>A MANE Select	ENSP00000288840.5:p.Pro415Gln
NM_005585.4:c.1244C>A	NP_005576.3:p.Pro415Gln
NR_027654.1:n.2299C>A
NR_027654.2:n.2399C>A
ENST00000288840.9:c.1244C>A	ENSP00000288840.5:p.Pro415Gln
ENST00000557916.5:c.1376C>A	ENSP00000452955.1:n.1376C>A
ENST00000559931.5:c.548C>A	ENSP00000453446.1:n.548C>A
XM_011521561.1:c.461C>A	XP_011519863.1:p.Pro154Gln
XM_011521561.2:c.461C>A	XP_011519863.1:p.Pro154Gln
XR_931825.1:n.2643C>A