Canonical Allele Identifier: CA393201678

Gene: SMAD6

Linked Data

• dbSNP Id: rs1355201183
• gnomAD v2: 15-67073395-A-G
• gnomAD v4: 15-66781057-A-G
• MyVariant Identifiers: chr15:g.67073395A>G (hg19) ; chr15:g.66781057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781057A>G , CM000677.2:g.66781057A>G	GRCh38
NC_000015.9:g.67073395A>G , CM000677.1:g.67073395A>G	GRCh37
NC_000015.8:g.64860449A>G	NCBI36
NG_012244.1:g.83722A>G
NG_012244.2:g.83722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1013A>G MANE Select	ENSP00000288840.5:p.Glu338Gly
ENST00000288840.9:c.1013A>G	ENSP00000288840.5:p.Glu338Gly
ENST00000557916.5:c.1145A>G	ENSP00000452955.1:n.1145A>G
ENST00000559931.5:c.317A>G	ENSP00000453446.1:n.317A>G
NM_005585.4:c.1013A>G	NP_005576.3:p.Glu338Gly
NR_027654.1:n.2068A>G
XM_011521561.1:c.230A>G	XP_011519863.1:p.Glu77Gly
XR_931825.1:n.2412A>G
XM_011521561.2:c.230A>G	XP_011519863.1:p.Glu77Gly
NM_005585.5:c.1013A>G MANE Select	NP_005576.3:p.Glu338Gly
NR_027654.2:n.2168A>G