Canonical Allele Identifier: CA7626703

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1768855
• ClinVar RCV Id: RCV002383072
• dbSNP Id: rs530424224
• ExAC: 15:67073381 C / T
• gnomAD v2: 15-67073381-C-T
• gnomAD v3: 15-66781043-C-T
• gnomAD v4: 15-66781043-C-T
• MyVariant Identifiers: chr15:g.67073381C>T (hg19) ; chr15:g.66781043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781043C>T , CM000677.2:g.66781043C>T	GRCh38
NC_000015.9:g.67073381C>T , CM000677.1:g.67073381C>T	GRCh37
NC_000015.8:g.64860435C>T	NCBI36
NG_012244.1:g.83708C>T
NG_012244.2:g.83708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.999C>T MANE Select	ENSP00000288840.5:p.Ser333=
ENST00000288840.9:c.999C>T	ENSP00000288840.5:p.Ser333=
ENST00000557916.5:c.1131C>T	ENSP00000452955.1:n.1131C>T
ENST00000559931.5:c.303C>T	ENSP00000453446.1:n.303C>T
NM_005585.4:c.999C>T	NP_005576.3:p.Ser333=
NR_027654.1:n.2054C>T
XM_011521561.1:c.216C>T	XP_011519863.1:p.Ser72=
XR_931825.1:n.2398C>T
XM_011521561.2:c.216C>T	XP_011519863.1:p.Ser72=
NM_005585.5:c.999C>T MANE Select	NP_005576.3:p.Ser333=
NR_027654.2:n.2154C>T