Canonical Allele Identifier: CA2629100904
Gene: SMAD6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703252A>T , CM000677.2:g.66703252A>T GRCh38
NC_000015.9:g.66995590A>T , CM000677.1:g.66995590A>T GRCh37
NC_000015.8:g.64782644A>T NCBI36
NG_012244.1:g.5917A>T
NG_012244.2:g.5917A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.-7A>T MANE Select ENSP00000288840.5:n.-7A>T
ENST00000288840.9:c.-7A>T ENSP00000288840.5:n.-7A>T
ENST00000612349.1:n.176A>T
NM_005585.4:c.-7A>T NP_005576.3:n.-7A>T
NR_027654.1:n.917A>T
XR_931825.1:n.1153A>T
XR_931826.1:n.1153A>T
XR_931827.1:n.1153A>T
XR_931827.2:n.1143A>T
NM_005585.5:c.-7A>T MANE Select NP_005576.3:n.-7A>T
NR_027654.2:n.1017A>T