Canonical Allele Identifier: CA393201624

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073372C>A (hg19) ; chr15:g.66781034C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781034C>A , CM000677.2:g.66781034C>A	GRCh38
NC_000015.9:g.67073372C>A , CM000677.1:g.67073372C>A	GRCh37
NC_000015.8:g.64860426C>A	NCBI36
NG_012244.1:g.83699C>A
NG_012244.2:g.83699C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.990C>A MANE Select	ENSP00000288840.5:p.His330Gln
ENST00000288840.9:c.990C>A	ENSP00000288840.5:p.His330Gln
ENST00000557916.5:c.1122C>A	ENSP00000452955.1:n.1122C>A
ENST00000559931.5:c.294C>A	ENSP00000453446.1:n.294C>A
NM_005585.4:c.990C>A	NP_005576.3:p.His330Gln
NR_027654.1:n.2045C>A
XM_011521561.1:c.207C>A	XP_011519863.1:p.His69Gln
XR_931825.1:n.2389C>A
XM_011521561.2:c.207C>A	XP_011519863.1:p.His69Gln
NM_005585.5:c.990C>A MANE Select	NP_005576.3:p.His330Gln
NR_027654.2:n.2145C>A