Canonical Allele Identifier: CA618958971

Gene: SMAD6

Linked Data

• dbSNP Id: rs1284102726
• gnomAD v2: 15-66995576-C-T
• gnomAD v3: 15-66703238-C-T
• gnomAD v4: 15-66703238-C-T
• MyVariant Identifiers: chr15:g.66995576C>T (hg19) ; chr15:g.66703238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703238C>T , CM000677.2:g.66703238C>T	GRCh38
NC_000015.9:g.66995576C>T , CM000677.1:g.66995576C>T	GRCh37
NC_000015.8:g.64782630C>T	NCBI36
NG_012244.1:g.5903C>T
NG_012244.2:g.5903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-21C>T MANE Select	ENSP00000288840.5:n.-21C>T
ENST00000288840.9:c.-21C>T	ENSP00000288840.5:n.-21C>T
ENST00000612349.1:n.162C>T
NM_005585.4:c.-21C>T	NP_005576.3:n.-21C>T
NR_027654.1:n.903C>T
XR_931825.1:n.1139C>T
XR_931826.1:n.1139C>T
XR_931827.1:n.1139C>T
XR_931827.2:n.1129C>T
NM_005585.5:c.-21C>T MANE Select	NP_005576.3:n.-21C>T
NR_027654.2:n.1003C>T