Canonical Allele Identifier: CA392948336

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703296-T-C
• MyVariant Identifiers: chr15:g.66995634T>C (hg19) ; chr15:g.66703296T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703296T>C , CM000677.2:g.66703296T>C	GRCh38
NC_000015.9:g.66995634T>C , CM000677.1:g.66995634T>C	GRCh37
NC_000015.8:g.64782688T>C	NCBI36
NG_012244.1:g.5961T>C
NG_012244.2:g.5961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.38T>C MANE Select	ENSP00000288840.5:p.Leu13Pro
ENST00000288840.9:c.38T>C	ENSP00000288840.5:p.Leu13Pro
ENST00000557916.5:c.38T>C	ENSP00000452955.1:p.Leu13Pro
ENST00000612349.1:n.220T>C
NM_005585.4:c.38T>C	NP_005576.3:p.Leu13Pro
NR_027654.1:n.961T>C
XR_931825.1:n.1197T>C
XR_931826.1:n.1197T>C
XR_931827.1:n.1197T>C
XR_931827.2:n.1187T>C
NM_005585.5:c.38T>C MANE Select	NP_005576.3:p.Leu13Pro
NR_027654.2:n.1061T>C