Canonical Allele Identifier: CA392948386

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703310-G-C
• MyVariant Identifiers: chr15:g.66995648G>C (hg19) ; chr15:g.66703310G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703310G>C , CM000677.2:g.66703310G>C	GRCh38
NC_000015.9:g.66995648G>C , CM000677.1:g.66995648G>C	GRCh37
NC_000015.8:g.64782702G>C	NCBI36
NG_012244.1:g.5975G>C
NG_012244.2:g.5975G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.52G>C MANE Select	ENSP00000288840.5:p.Val18Leu
ENST00000288840.9:c.52G>C	ENSP00000288840.5:p.Val18Leu
ENST00000557916.5:c.52G>C	ENSP00000452955.1:p.Val18Leu
ENST00000612349.1:n.234G>C
NM_005585.4:c.52G>C	NP_005576.3:p.Val18Leu
NR_027654.1:n.975G>C
XR_931825.1:n.1211G>C
XR_931826.1:n.1211G>C
XR_931827.1:n.1211G>C
XR_931827.2:n.1201G>C
NM_005585.5:c.52G>C MANE Select	NP_005576.3:p.Val18Leu
NR_027654.2:n.1075G>C