Canonical Allele Identifier: CA393201848

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1440289
• ClinVar RCV Id: RCV001978817
• dbSNP Id: rs1176080464
• gnomAD v4: 15-66781137-G-T
• MyVariant Identifiers: chr15:g.67073475G>T (hg19) ; chr15:g.66781137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781137G>T , CM000677.2:g.66781137G>T	GRCh38
NC_000015.9:g.67073475G>T , CM000677.1:g.67073475G>T	GRCh37
NC_000015.8:g.64860529G>T	NCBI36
NG_012244.1:g.83802G>T
NG_012244.2:g.83802G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1093G>T MANE Select	ENSP00000288840.5:p.Gly365Cys
ENST00000288840.9:c.1093G>T	ENSP00000288840.5:p.Gly365Cys
ENST00000557916.5:c.1225G>T	ENSP00000452955.1:n.1225G>T
ENST00000559931.5:c.397G>T	ENSP00000453446.1:n.397G>T
NM_005585.4:c.1093G>T	NP_005576.3:p.Gly365Cys
NR_027654.1:n.2148G>T
XM_011521561.1:c.310G>T	XP_011519863.1:p.Gly104Cys
XR_931825.1:n.2492G>T
XM_011521561.2:c.310G>T	XP_011519863.1:p.Gly104Cys
NM_005585.5:c.1093G>T MANE Select	NP_005576.3:p.Gly365Cys
NR_027654.2:n.2248G>T