Canonical Allele Identifier: CA2581223465

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66774225C>A , CM000677.2:g.66774225C>A	GRCh38
NC_000015.9:g.67066563C>A , CM000677.1:g.67066563C>A	GRCh37
NC_000015.8:g.64853617C>A	NCBI36
NG_012244.1:g.76890C>A
NG_012244.2:g.76890C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-6772C>A MANE Select	ENSP00000288840.5:n.953-6772C>A
ENST00000288840.9:c.953-6772C>A	ENSP00000288840.5:n.953-6772C>A
ENST00000557916.5:c.1085-6772C>A	ENSP00000452955.1:n.1085-6772C>A
ENST00000559931.5:c.257-6772C>A	ENSP00000453446.1:n.257-6772C>A
NM_005585.4:c.953-6772C>A	NP_005576.3:n.953-6772C>A
NR_027654.1:n.2008-6772C>A
XM_011521561.1:c.170-6772C>A	XP_011519863.1:n.170-6772C>A
XR_931825.1:n.2352-6772C>A
XM_011521561.2:c.170-6772C>A	XP_011519863.1:n.170-6772C>A
NM_005585.5:c.953-6772C>A MANE Select	NP_005576.3:n.953-6772C>A
NR_027654.2:n.2108-6772C>A