Canonical Allele Identifier: CA490908975

Gene: SMAD6

Linked Data

• dbSNP Id: rs1283304402
• gnomAD v2: 15-67073447-C-T
• gnomAD v4: 15-66781109-C-T
• MyVariant Identifiers: chr15:g.67073447C>T (hg19) ; chr15:g.66781109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781109C>T , CM000677.2:g.66781109C>T	GRCh38
NC_000015.9:g.67073447C>T , CM000677.1:g.67073447C>T	GRCh37
NC_000015.8:g.64860501C>T	NCBI36
NG_012244.1:g.83774C>T
NG_012244.2:g.83774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1065C>T MANE Select	ENSP00000288840.5:p.Ser355=
ENST00000288840.9:c.1065C>T	ENSP00000288840.5:p.Ser355=
ENST00000557916.5:c.1197C>T	ENSP00000452955.1:n.1197C>T
ENST00000559931.5:c.369C>T	ENSP00000453446.1:n.369C>T
NM_005585.4:c.1065C>T	NP_005576.3:p.Ser355=
NR_027654.1:n.2120C>T
XM_011521561.1:c.282C>T	XP_011519863.1:p.Ser94=
XR_931825.1:n.2464C>T
XM_011521561.2:c.282C>T	XP_011519863.1:p.Ser94=
NM_005585.5:c.1065C>T MANE Select	NP_005576.3:p.Ser355=
NR_027654.2:n.2220C>T