Canonical Allele Identifier: CA970941788

Gene: SMAD6

Linked Data

• dbSNP Id: rs1893013839
• gnomAD v3: 15-66703227-T-C
• gnomAD v4: 15-66703227-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703227T>C , CM000677.2:g.66703227T>C	GRCh38
NC_000015.9:g.66995565T>C , CM000677.1:g.66995565T>C	GRCh37
NC_000015.8:g.64782619T>C	NCBI36
NG_012244.1:g.5892T>C
NG_012244.2:g.5892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-32T>C MANE Select	ENSP00000288840.5:n.-32T>C
ENST00000288840.9:c.-32T>C	ENSP00000288840.5:n.-32T>C
ENST00000612349.1:n.151T>C
NM_005585.4:c.-32T>C	NP_005576.3:n.-32T>C
NR_027654.1:n.892T>C
XR_931825.1:n.1128T>C
XR_931826.1:n.1128T>C
XR_931827.1:n.1128T>C
XR_931827.2:n.1118T>C
NM_005585.5:c.-32T>C MANE Select	NP_005576.3:n.-32T>C
NR_027654.2:n.992T>C