Canonical Allele Identifier: CA393201551

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894550121
• gnomAD v4: 15-66781002-A-T
• MyVariant Identifiers: chr15:g.67073340A>T (hg19) ; chr15:g.66781002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781002A>T , CM000677.2:g.66781002A>T	GRCh38
NC_000015.9:g.67073340A>T , CM000677.1:g.67073340A>T	GRCh37
NC_000015.8:g.64860394A>T	NCBI36
NG_012244.1:g.83667A>T
NG_012244.2:g.83667A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.958A>T MANE Select	ENSP00000288840.5:p.Ser320Cys
ENST00000288840.9:c.958A>T	ENSP00000288840.5:p.Ser320Cys
ENST00000557916.5:c.1090A>T	ENSP00000452955.1:n.1090A>T
ENST00000559931.5:c.262A>T	ENSP00000453446.1:n.262A>T
NM_005585.4:c.958A>T	NP_005576.3:p.Ser320Cys
NR_027654.1:n.2013A>T
XM_011521561.1:c.175A>T	XP_011519863.1:p.Ser59Cys
XR_931825.1:n.2357A>T
XM_011521561.2:c.175A>T	XP_011519863.1:p.Ser59Cys
NM_005585.5:c.958A>T MANE Select	NP_005576.3:p.Ser320Cys
NR_027654.2:n.2113A>T