Canonical Allele Identifier: CA2184217192
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66742613C= , CM000677.2:g.66742613C= GRCh38
NC_000015.9:g.67034951C= , CM000677.1:g.67034951C= GRCh37
NC_000015.8:g.64822005C= NCBI36
NG_012244.1:g.45278C=
NG_012244.2:g.45278C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.952+26115C= MANE Select ENSP00000288840.5:n.952+26115C=
ENST00000288840.9:c.952+26115C= ENSP00000288840.5:n.952+26115C=
ENST00000557916.5:c.1084+25473C= ENSP00000452955.1:n.1084+25473C=
ENST00000559931.5:c.256+25473C= ENSP00000453446.1:n.256+25473C=
NM_005585.4:c.952+26115C= NP_005576.3:n.952+26115C=
NR_027654.1:n.2007+25473C=
XM_011521561.1:c.169+26115C= XP_011519863.1:n.169+26115C=
XR_931825.1:n.2351+26115C=
XM_011521561.2:c.169+26115C= XP_011519863.1:n.169+26115C=
NM_005585.5:c.952+26115C= MANE Select NP_005576.3:n.952+26115C=
NR_027654.2:n.2107+25473C=