Canonical Allele Identifier: CA392948451

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703330-A-T
• MyVariant Identifiers: chr15:g.66995668A>T (hg19) ; chr15:g.66703330A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703330A>T , CM000677.2:g.66703330A>T	GRCh38
NC_000015.9:g.66995668A>T , CM000677.1:g.66995668A>T	GRCh37
NC_000015.8:g.64782722A>T	NCBI36
NG_012244.1:g.5995A>T
NG_012244.2:g.5995A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.72A>T MANE Select	ENSP00000288840.5:p.Glu24Asp
ENST00000288840.9:c.72A>T	ENSP00000288840.5:p.Glu24Asp
ENST00000557916.5:c.72A>T	ENSP00000452955.1:p.Glu24Asp
ENST00000612349.1:n.254A>T
NM_005585.4:c.72A>T	NP_005576.3:p.Glu24Asp
NR_027654.1:n.995A>T
XR_931825.1:n.1231A>T
XR_931826.1:n.1231A>T
XR_931827.1:n.1231A>T
XR_931827.2:n.1221A>T
NM_005585.5:c.72A>T MANE Select	NP_005576.3:p.Glu24Asp
NR_027654.2:n.1095A>T