Canonical Allele Identifier: CA393201615

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073368G>A (hg19) ; chr15:g.66781030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781030G>A , CM000677.2:g.66781030G>A	GRCh38
NC_000015.9:g.67073368G>A , CM000677.1:g.67073368G>A	GRCh37
NC_000015.8:g.64860422G>A	NCBI36
NG_012244.1:g.83695G>A
NG_012244.2:g.83695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.986G>A MANE Select	ENSP00000288840.5:p.Ser329Asn
ENST00000288840.9:c.986G>A	ENSP00000288840.5:p.Ser329Asn
ENST00000557916.5:c.1118G>A	ENSP00000452955.1:n.1118G>A
ENST00000559931.5:c.290G>A	ENSP00000453446.1:n.290G>A
NM_005585.4:c.986G>A	NP_005576.3:p.Ser329Asn
NR_027654.1:n.2041G>A
XM_011521561.1:c.203G>A	XP_011519863.1:p.Ser68Asn
XR_931825.1:n.2385G>A
XM_011521561.2:c.203G>A	XP_011519863.1:p.Ser68Asn
NM_005585.5:c.986G>A MANE Select	NP_005576.3:p.Ser329Asn
NR_027654.2:n.2141G>A