Canonical Allele Identifier: CA392948257

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.66995609A>T (hg19) ; chr15:g.66703271A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703271A>T , CM000677.2:g.66703271A>T	GRCh38
NC_000015.9:g.66995609A>T , CM000677.1:g.66995609A>T	GRCh37
NC_000015.8:g.64782663A>T	NCBI36
NG_012244.1:g.5936A>T
NG_012244.2:g.5936A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.13A>T MANE Select	ENSP00000288840.5:p.Lys5Ter
ENST00000288840.9:c.13A>T	ENSP00000288840.5:p.Lys5Ter
ENST00000557916.5:c.13A>T	ENSP00000452955.1:p.Lys5Ter
ENST00000612349.1:n.195A>T
NM_005585.4:c.13A>T	NP_005576.3:p.Lys5Ter
NR_027654.1:n.936A>T
XR_931825.1:n.1172A>T
XR_931826.1:n.1172A>T
XR_931827.1:n.1172A>T
XR_931827.2:n.1162A>T
NM_005585.5:c.13A>T MANE Select	NP_005576.3:p.Lys5Ter
NR_027654.2:n.1036A>T