Canonical Allele Identifier: CA393201794

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781113T>C , CM000677.2:g.66781113T>C	GRCh38
NC_000015.9:g.67073451T>C , CM000677.1:g.67073451T>C	GRCh37
NC_000015.8:g.64860505T>C	NCBI36
NG_012244.1:g.83778T>C
NG_012244.2:g.83778T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005585.5:c.1069T>C MANE Select	NP_005576.3:p.Phe357Leu
ENST00000288840.10:c.1069T>C MANE Select	ENSP00000288840.5:p.Phe357Leu
NM_005585.4:c.1069T>C	NP_005576.3:p.Phe357Leu
NR_027654.1:n.2124T>C
NR_027654.2:n.2224T>C
ENST00000288840.9:c.1069T>C	ENSP00000288840.5:p.Phe357Leu
ENST00000557916.5:c.1201T>C	ENSP00000452955.1:n.1201T>C
ENST00000559931.5:c.373T>C	ENSP00000453446.1:n.373T>C
XM_011521561.1:c.286T>C	XP_011519863.1:p.Phe96Leu
XM_011521561.2:c.286T>C	XP_011519863.1:p.Phe96Leu
XR_931825.1:n.2468T>C