Canonical Allele Identifier: CA618958964

Gene: SMAD6

Linked Data

• dbSNP Id: rs1391038664
• gnomAD v2: 15-66995506-G-A
• gnomAD v3: 15-66703168-G-A
• gnomAD v4: 15-66703168-G-A
• MyVariant Identifiers: chr15:g.66995506G>A (hg19) ; chr15:g.66703168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703168G>A , CM000677.2:g.66703168G>A	GRCh38
NC_000015.9:g.66995506G>A , CM000677.1:g.66995506G>A	GRCh37
NC_000015.8:g.64782560G>A	NCBI36
NG_012244.1:g.5833G>A
NG_012244.2:g.5833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-91G>A MANE Select	ENSP00000288840.5:n.-91G>A
ENST00000288840.9:c.-91G>A	ENSP00000288840.5:n.-91G>A
ENST00000612349.1:n.92G>A
NM_005585.4:c.-91G>A	NP_005576.3:n.-91G>A
NR_027654.1:n.833G>A
XR_931825.1:n.1069G>A
XR_931826.1:n.1069G>A
XR_931827.1:n.1069G>A
XR_931827.2:n.1059G>A
NM_005585.5:c.-91G>A MANE Select	NP_005576.3:n.-91G>A
NR_027654.2:n.933G>A