Canonical Allele Identifier: CA2184234629
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781013G= , CM000677.2:g.66781013G= GRCh38
NC_000015.9:g.67073351G= , CM000677.1:g.67073351G= GRCh37
NC_000015.8:g.64860405G= NCBI36
NG_012244.1:g.83678G=
NG_012244.2:g.83678G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.969G= MANE Select ENSP00000288840.5:p.Pro323=
ENST00000288840.9:c.969G= ENSP00000288840.5:p.Pro323=
ENST00000557916.5:c.1101G= ENSP00000452955.1:n.1101G=
ENST00000559931.5:c.273G= ENSP00000453446.1:n.273G=
NM_005585.4:c.969G= NP_005576.3:p.Pro323=
NR_027654.1:n.2024G=
XM_011521561.1:c.186G= XP_011519863.1:p.Pro62=
XR_931825.1:n.2368G=
XM_011521561.2:c.186G= XP_011519863.1:p.Pro62=
NM_005585.5:c.969G= MANE Select NP_005576.3:p.Pro323=
NR_027654.2:n.2124G=