Canonical Allele Identifier: CA393201553

Gene: SMAD6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.958A>G MANE Select	ENSP00000288840.5:p.Ser320Gly
ENST00000288840.9:c.958A>G	ENSP00000288840.5:p.Ser320Gly
ENST00000557916.5:c.1090A>G	ENSP00000452955.1:n.1090A>G
ENST00000559931.5:c.262A>G	ENSP00000453446.1:n.262A>G
NM_005585.4:c.958A>G	NP_005576.3:p.Ser320Gly
NR_027654.1:n.2013A>G
XM_011521561.1:c.175A>G	XP_011519863.1:p.Ser59Gly
XR_931825.1:n.2357A>G
XM_011521561.2:c.175A>G	XP_011519863.1:p.Ser59Gly
NM_005585.5:c.958A>G MANE Select	NP_005576.3:p.Ser320Gly
NR_027654.2:n.2113A>G