Canonical Allele Identifier: CA393201799

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781115C>G , CM000677.2:g.66781115C>G	GRCh38
NC_000015.9:g.67073453C>G , CM000677.1:g.67073453C>G	GRCh37
NC_000015.8:g.64860507C>G	NCBI36
NG_012244.1:g.83780C>G
NG_012244.2:g.83780C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005585.5:c.1071C>G MANE Select	NP_005576.3:p.Phe357Leu
ENST00000288840.10:c.1071C>G MANE Select	ENSP00000288840.5:p.Phe357Leu
NM_005585.4:c.1071C>G	NP_005576.3:p.Phe357Leu
NR_027654.1:n.2126C>G
NR_027654.2:n.2226C>G
ENST00000288840.9:c.1071C>G	ENSP00000288840.5:p.Phe357Leu
ENST00000557916.5:c.1203C>G	ENSP00000452955.1:n.1203C>G
ENST00000559931.5:c.375C>G	ENSP00000453446.1:n.375C>G
XM_011521561.1:c.288C>G	XP_011519863.1:p.Phe96Leu
XM_011521561.2:c.288C>G	XP_011519863.1:p.Phe96Leu
XR_931825.1:n.2470C>G