Canonical Allele Identifier: CA2184231519
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66774199C= , CM000677.2:g.66774199C= GRCh38
NC_000015.9:g.67066537C= , CM000677.1:g.67066537C= GRCh37
NC_000015.8:g.64853591C= NCBI36
NG_012244.1:g.76864C=
NG_012244.2:g.76864C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.953-6798C= MANE Select ENSP00000288840.5:n.953-6798C=
ENST00000288840.9:c.953-6798C= ENSP00000288840.5:n.953-6798C=
ENST00000557916.5:c.1085-6798C= ENSP00000452955.1:n.1085-6798C=
ENST00000559931.5:c.257-6798C= ENSP00000453446.1:n.257-6798C=
NM_005585.4:c.953-6798C= NP_005576.3:n.953-6798C=
NR_027654.1:n.2008-6798C=
XM_011521561.1:c.170-6798C= XP_011519863.1:n.170-6798C=
XR_931825.1:n.2352-6798C=
XM_011521561.2:c.170-6798C= XP_011519863.1:n.170-6798C=
NM_005585.5:c.953-6798C= MANE Select NP_005576.3:n.953-6798C=
NR_027654.2:n.2108-6798C=