Canonical Allele Identifier: CA2629105711

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780948-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780948C>A , CM000677.2:g.66780948C>A	GRCh38
NC_000015.9:g.67073286C>A , CM000677.1:g.67073286C>A	GRCh37
NC_000015.8:g.64860340C>A	NCBI36
NG_012244.1:g.83613C>A
NG_012244.2:g.83613C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-49C>A MANE Select	ENSP00000288840.5:n.953-49C>A
ENST00000288840.9:c.953-49C>A	ENSP00000288840.5:n.953-49C>A
ENST00000557916.5:c.1085-49C>A	ENSP00000452955.1:n.1085-49C>A
ENST00000559931.5:c.257-49C>A	ENSP00000453446.1:n.257-49C>A
NM_005585.4:c.953-49C>A	NP_005576.3:n.953-49C>A
NR_027654.1:n.2008-49C>A
XM_011521561.1:c.170-49C>A	XP_011519863.1:n.170-49C>A
XR_931825.1:n.2352-49C>A
XM_011521561.2:c.170-49C>A	XP_011519863.1:n.170-49C>A
NM_005585.5:c.953-49C>A MANE Select	NP_005576.3:n.953-49C>A
NR_027654.2:n.2108-49C>A