Canonical Allele Identifier: CA7626702
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2893088
ClinVar RCV Id: RCV003648824
dbSNP Id: rs199531653

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781042G>A , CM000677.2:g.66781042G>A GRCh38
NC_000015.9:g.67073380G>A , CM000677.1:g.67073380G>A GRCh37
NC_000015.8:g.64860434G>A NCBI36
NG_012244.1:g.83707G>A
NG_012244.2:g.83707G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.998G>A MANE Select ENSP00000288840.5:p.Ser333Asn
ENST00000288840.9:c.998G>A ENSP00000288840.5:p.Ser333Asn
ENST00000557916.5:c.1130G>A ENSP00000452955.1:n.1130G>A
ENST00000559931.5:c.302G>A ENSP00000453446.1:n.302G>A
NM_005585.4:c.998G>A NP_005576.3:p.Ser333Asn
NR_027654.1:n.2053G>A
XM_011521561.1:c.215G>A XP_011519863.1:p.Ser72Asn
XR_931825.1:n.2397G>A
XM_011521561.2:c.215G>A XP_011519863.1:p.Ser72Asn
NM_005585.5:c.998G>A MANE Select NP_005576.3:p.Ser333Asn
NR_027654.2:n.2153G>A