Canonical Allele Identifier: CA393201552

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073340A>C (hg19) ; chr15:g.66781002A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.958A>C MANE Select	ENSP00000288840.5:p.Ser320Arg
ENST00000288840.9:c.958A>C	ENSP00000288840.5:p.Ser320Arg
ENST00000557916.5:c.1090A>C	ENSP00000452955.1:n.1090A>C
ENST00000559931.5:c.262A>C	ENSP00000453446.1:n.262A>C
NM_005585.4:c.958A>C	NP_005576.3:p.Ser320Arg
NR_027654.1:n.2013A>C
XM_011521561.1:c.175A>C	XP_011519863.1:p.Ser59Arg
XR_931825.1:n.2357A>C
XM_011521561.2:c.175A>C	XP_011519863.1:p.Ser59Arg
NM_005585.5:c.958A>C MANE Select	NP_005576.3:p.Ser320Arg
NR_027654.2:n.2113A>C