Canonical Allele Identifier: CA2804552567

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703254A>C , CM000677.2:g.66703254A>C	GRCh38
NC_000015.9:g.66995592A>C , CM000677.1:g.66995592A>C	GRCh37
NC_000015.8:g.64782646A>C	NCBI36
NG_012244.1:g.5919A>C
NG_012244.2:g.5919A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.-5A>C MANE Select	ENSP00000288840.5:n.-5A>C
ENST00000288840.9:c.-5A>C	ENSP00000288840.5:n.-5A>C
ENST00000612349.1:n.178A>C
NM_005585.4:c.-5A>C	NP_005576.3:n.-5A>C
NR_027654.1:n.919A>C
XR_931825.1:n.1155A>C
XR_931826.1:n.1155A>C
XR_931827.1:n.1155A>C
XR_931827.2:n.1145A>C
NM_005585.5:c.-5A>C MANE Select	NP_005576.3:n.-5A>C
NR_027654.2:n.1019A>C