Canonical Allele Identifier: CA393201610

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073367A>C (hg19) ; chr15:g.66781029A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781029A>C , CM000677.2:g.66781029A>C	GRCh38
NC_000015.9:g.67073367A>C , CM000677.1:g.67073367A>C	GRCh37
NC_000015.8:g.64860421A>C	NCBI36
NG_012244.1:g.83694A>C
NG_012244.2:g.83694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.985A>C MANE Select	ENSP00000288840.5:p.Ser329Arg
ENST00000288840.9:c.985A>C	ENSP00000288840.5:p.Ser329Arg
ENST00000557916.5:c.1117A>C	ENSP00000452955.1:n.1117A>C
ENST00000559931.5:c.289A>C	ENSP00000453446.1:n.289A>C
NM_005585.4:c.985A>C	NP_005576.3:p.Ser329Arg
NR_027654.1:n.2040A>C
XM_011521561.1:c.202A>C	XP_011519863.1:p.Ser68Arg
XR_931825.1:n.2384A>C
XM_011521561.2:c.202A>C	XP_011519863.1:p.Ser68Arg
NM_005585.5:c.985A>C MANE Select	NP_005576.3:p.Ser329Arg
NR_027654.2:n.2140A>C