Canonical Allele Identifier: CA14104575

Gene: SMAD6

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66742613C>A , CM000677.2:g.66742613C>A	GRCh38
NC_000015.9:g.67034951C>A , CM000677.1:g.67034951C>A	GRCh37
NC_000015.8:g.64822005C>A	NCBI36
NG_012244.1:g.45278C>A
NG_012244.2:g.45278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.952+26115C>A MANE Select	ENSP00000288840.5:n.952+26115C>A
ENST00000288840.9:c.952+26115C>A	ENSP00000288840.5:n.952+26115C>A
ENST00000557916.5:c.1084+25473C>A	ENSP00000452955.1:n.1084+25473C>A
ENST00000559931.5:c.256+25473C>A	ENSP00000453446.1:n.256+25473C>A
NM_005585.4:c.952+26115C>A	NP_005576.3:n.952+26115C>A
NR_027654.1:n.2007+25473C>A
XM_011521561.1:c.169+26115C>A	XP_011519863.1:n.169+26115C>A
XR_931825.1:n.2351+26115C>A
XM_011521561.2:c.169+26115C>A	XP_011519863.1:n.169+26115C>A
NM_005585.5:c.952+26115C>A MANE Select	NP_005576.3:n.952+26115C>A
NR_027654.2:n.2107+25473C>A