Canonical Allele Identifier: CA392948236

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703265-A-T
• MyVariant Identifiers: chr15:g.66995603A>T (hg19) ; chr15:g.66703265A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703265A>T , CM000677.2:g.66703265A>T	GRCh38
NC_000015.9:g.66995603A>T , CM000677.1:g.66995603A>T	GRCh37
NC_000015.8:g.64782657A>T	NCBI36
NG_012244.1:g.5930A>T
NG_012244.2:g.5930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.7A>T MANE Select	ENSP00000288840.5:p.Arg3Trp
ENST00000288840.9:c.7A>T	ENSP00000288840.5:p.Arg3Trp
ENST00000557916.5:c.7A>T	ENSP00000452955.1:p.Arg3Trp
ENST00000612349.1:n.189A>T
NM_005585.4:c.7A>T	NP_005576.3:p.Arg3Trp
NR_027654.1:n.930A>T
XR_931825.1:n.1166A>T
XR_931826.1:n.1166A>T
XR_931827.1:n.1166A>T
XR_931827.2:n.1156A>T
NM_005585.5:c.7A>T MANE Select	NP_005576.3:p.Arg3Trp
NR_027654.2:n.1030A>T