Canonical Allele Identifier: CA393201678
Gene: SMAD6 HGNC NCBI

Linked Data

dbSNP Id: rs1355201183

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781057A>G , CM000677.2:g.66781057A>G GRCh38
NC_000015.9:g.67073395A>G , CM000677.1:g.67073395A>G GRCh37
NC_000015.8:g.64860449A>G NCBI36
NG_012244.1:g.83722A>G
NG_012244.2:g.83722A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1013A>G MANE Select ENSP00000288840.5:p.Glu338Gly
ENST00000288840.9:c.1013A>G ENSP00000288840.5:p.Glu338Gly
ENST00000557916.5:c.1145A>G ENSP00000452955.1:n.1145A>G
ENST00000559931.5:c.317A>G ENSP00000453446.1:n.317A>G
NM_005585.4:c.1013A>G NP_005576.3:p.Glu338Gly
NR_027654.1:n.2068A>G
XM_011521561.1:c.230A>G XP_011519863.1:p.Glu77Gly
XR_931825.1:n.2412A>G
XM_011521561.2:c.230A>G XP_011519863.1:p.Glu77Gly
NM_005585.5:c.1013A>G MANE Select NP_005576.3:p.Glu338Gly
NR_027654.2:n.2168A>G