Canonical Allele Identifier: CA393201660

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073388T>G (hg19) ; chr15:g.66781050T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781050T>G , CM000677.2:g.66781050T>G	GRCh38
NC_000015.9:g.67073388T>G , CM000677.1:g.67073388T>G	GRCh37
NC_000015.8:g.64860442T>G	NCBI36
NG_012244.1:g.83715T>G
NG_012244.2:g.83715T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1006T>G MANE Select	ENSP00000288840.5:p.Tyr336Asp
ENST00000288840.9:c.1006T>G	ENSP00000288840.5:p.Tyr336Asp
ENST00000557916.5:c.1138T>G	ENSP00000452955.1:n.1138T>G
ENST00000559931.5:c.310T>G	ENSP00000453446.1:n.310T>G
NM_005585.4:c.1006T>G	NP_005576.3:p.Tyr336Asp
NR_027654.1:n.2061T>G
XM_011521561.1:c.223T>G	XP_011519863.1:p.Tyr75Asp
XR_931825.1:n.2405T>G
XM_011521561.2:c.223T>G	XP_011519863.1:p.Tyr75Asp
NM_005585.5:c.1006T>G MANE Select	NP_005576.3:p.Tyr336Asp
NR_027654.2:n.2161T>G