Canonical Allele Identifier: CA393201825

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073466C>A (hg19) ; chr15:g.66781128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781128C>A , CM000677.2:g.66781128C>A	GRCh38
NC_000015.9:g.67073466C>A , CM000677.1:g.67073466C>A	GRCh37
NC_000015.8:g.64860520C>A	NCBI36
NG_012244.1:g.83793C>A
NG_012244.2:g.83793C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1084C>A MANE Select	ENSP00000288840.5:p.Gln362Lys
ENST00000288840.9:c.1084C>A	ENSP00000288840.5:p.Gln362Lys
ENST00000557916.5:c.1216C>A	ENSP00000452955.1:n.1216C>A
ENST00000559931.5:c.388C>A	ENSP00000453446.1:n.388C>A
NM_005585.4:c.1084C>A	NP_005576.3:p.Gln362Lys
NR_027654.1:n.2139C>A
XM_011521561.1:c.301C>A	XP_011519863.1:p.Gln101Lys
XR_931825.1:n.2483C>A
XM_011521561.2:c.301C>A	XP_011519863.1:p.Gln101Lys
NM_005585.5:c.1084C>A MANE Select	NP_005576.3:p.Gln362Lys
NR_027654.2:n.2239C>A