Canonical Allele Identifier: CA392948475

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.66995675A>C (hg19) ; chr15:g.66703337A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703337A>C , CM000677.2:g.66703337A>C	GRCh38
NC_000015.9:g.66995675A>C , CM000677.1:g.66995675A>C	GRCh37
NC_000015.8:g.64782729A>C	NCBI36
NG_012244.1:g.6002A>C
NG_012244.2:g.6002A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.79A>C MANE Select	ENSP00000288840.5:p.Ser27Arg
ENST00000288840.9:c.79A>C	ENSP00000288840.5:p.Ser27Arg
ENST00000557916.5:c.79A>C	ENSP00000452955.1:p.Ser27Arg
ENST00000612349.1:n.261A>C
NM_005585.4:c.79A>C	NP_005576.3:p.Ser27Arg
NR_027654.1:n.1002A>C
XR_931825.1:n.1238A>C
XR_931826.1:n.1238A>C
XR_931827.1:n.1238A>C
XR_931827.2:n.1228A>C
NM_005585.5:c.79A>C MANE Select	NP_005576.3:p.Ser27Arg
NR_027654.2:n.1102A>C