Canonical Allele Identifier: CA490909003

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073462A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781124A>G , CM000677.2:g.66781124A>G	GRCh38
NC_000015.9:g.67073462A>G , CM000677.1:g.67073462A>G	GRCh37
NC_000015.8:g.64860516A>G	NCBI36
NG_012244.1:g.83789A>G
NG_012244.2:g.83789A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1080A>G MANE Select	ENSP00000288840.5:p.Leu360=
ENST00000288840.9:c.1080A>G	ENSP00000288840.5:p.Leu360=
ENST00000557916.5:c.1212A>G	ENSP00000452955.1:n.1212A>G
ENST00000559931.5:c.384A>G	ENSP00000453446.1:n.384A>G
NM_005585.4:c.1080A>G	NP_005576.3:p.Leu360=
NR_027654.1:n.2135A>G
XM_011521561.1:c.297A>G	XP_011519863.1:p.Leu99=
XR_931825.1:n.2479A>G
XM_011521561.2:c.297A>G	XP_011519863.1:p.Leu99=
NM_005585.5:c.1080A>G MANE Select	NP_005576.3:p.Leu360=
NR_027654.2:n.2235A>G