Canonical Allele Identifier: CA393201545

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780998-C-G
• MyVariant Identifiers: chr15:g.67073336C>G (hg19) ; chr15:g.66780998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780998C>G , CM000677.2:g.66780998C>G	GRCh38
NC_000015.9:g.67073336C>G , CM000677.1:g.67073336C>G	GRCh37
NC_000015.8:g.64860390C>G	NCBI36
NG_012244.1:g.83663C>G
NG_012244.2:g.83663C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.954C>G MANE Select	ENSP00000288840.5:p.Asp318Glu
ENST00000288840.9:c.954C>G	ENSP00000288840.5:p.Asp318Glu
ENST00000557916.5:c.1086C>G	ENSP00000452955.1:n.1086C>G
ENST00000559931.5:c.258C>G	ENSP00000453446.1:n.258C>G
NM_005585.4:c.954C>G	NP_005576.3:p.Asp318Glu
NR_027654.1:n.2009C>G
XM_011521561.1:c.171C>G	XP_011519863.1:p.Asp57Glu
XR_931825.1:n.2353C>G
XM_011521561.2:c.171C>G	XP_011519863.1:p.Asp57Glu
NM_005585.5:c.954C>G MANE Select	NP_005576.3:p.Asp318Glu
NR_027654.2:n.2109C>G