Canonical Allele Identifier: CA271682424

Gene: SMAD6

Linked Data

• dbSNP Id: rs971934215
• gnomAD v2: 15-66995571-C-T
• gnomAD v4: 15-66703233-C-T
• MyVariant Identifiers: chr15:g.66995571C>T (hg19) ; chr15:g.66703233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703233C>T , CM000677.2:g.66703233C>T	GRCh38
NC_000015.9:g.66995571C>T , CM000677.1:g.66995571C>T	GRCh37
NC_000015.8:g.64782625C>T	NCBI36
NG_012244.1:g.5898C>T
NG_012244.2:g.5898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-26C>T MANE Select	ENSP00000288840.5:n.-26C>T
ENST00000288840.9:c.-26C>T	ENSP00000288840.5:n.-26C>T
ENST00000612349.1:n.157C>T
NM_005585.4:c.-26C>T	NP_005576.3:n.-26C>T
NR_027654.1:n.898C>T
XR_931825.1:n.1134C>T
XR_931826.1:n.1134C>T
XR_931827.1:n.1134C>T
XR_931827.2:n.1124C>T
NM_005585.5:c.-26C>T MANE Select	NP_005576.3:n.-26C>T
NR_027654.2:n.998C>T