Canonical Allele Identifier: CA2184234655
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781046G= , CM000677.2:g.66781046G= GRCh38
NC_000015.9:g.67073384G= , CM000677.1:g.67073384G= GRCh37
NC_000015.8:g.64860438G= NCBI36
NG_012244.1:g.83711G=
NG_012244.2:g.83711G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1002G= MANE Select ENSP00000288840.5:p.Val334=
ENST00000288840.9:c.1002G= ENSP00000288840.5:p.Val334=
ENST00000557916.5:c.1134G= ENSP00000452955.1:n.1134G=
ENST00000559931.5:c.306G= ENSP00000453446.1:n.306G=
NM_005585.4:c.1002G= NP_005576.3:p.Val334=
NR_027654.1:n.2057G=
XM_011521561.1:c.219G= XP_011519863.1:p.Val73=
XR_931825.1:n.2401G=
XM_011521561.2:c.219G= XP_011519863.1:p.Val73=
NM_005585.5:c.1002G= MANE Select NP_005576.3:p.Val334=
NR_027654.2:n.2157G=