Canonical Allele Identifier: CA2184231385
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66773918C= , CM000677.2:g.66773918C= GRCh38
NC_000015.9:g.67066256C= , CM000677.1:g.67066256C= GRCh37
NC_000015.8:g.64853310C= NCBI36
NG_012244.1:g.76583C=
NG_012244.2:g.76583C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.953-7079C= MANE Select ENSP00000288840.5:n.953-7079C=
ENST00000288840.9:c.953-7079C= ENSP00000288840.5:n.953-7079C=
ENST00000557916.5:c.1085-7079C= ENSP00000452955.1:n.1085-7079C=
ENST00000559931.5:c.257-7079C= ENSP00000453446.1:n.257-7079C=
NM_005585.4:c.953-7079C= NP_005576.3:n.953-7079C=
NR_027654.1:n.2008-7079C=
XM_011521561.1:c.170-7079C= XP_011519863.1:n.170-7079C=
XR_931825.1:n.2352-7079C=
XM_011521561.2:c.170-7079C= XP_011519863.1:n.170-7079C=
NM_005585.5:c.953-7079C= MANE Select NP_005576.3:n.953-7079C=
NR_027654.2:n.2108-7079C=