Canonical Allele Identifier: CA393201743

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073428T>A (hg19) ; chr15:g.66781090T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781090T>A , CM000677.2:g.66781090T>A	GRCh38
NC_000015.9:g.67073428T>A , CM000677.1:g.67073428T>A	GRCh37
NC_000015.8:g.64860482T>A	NCBI36
NG_012244.1:g.83755T>A
NG_012244.2:g.83755T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1046T>A MANE Select	ENSP00000288840.5:p.Val349Glu
ENST00000288840.9:c.1046T>A	ENSP00000288840.5:p.Val349Glu
ENST00000557916.5:c.1178T>A	ENSP00000452955.1:n.1178T>A
ENST00000559931.5:c.350T>A	ENSP00000453446.1:n.350T>A
NM_005585.4:c.1046T>A	NP_005576.3:p.Val349Glu
NR_027654.1:n.2101T>A
XM_011521561.1:c.263T>A	XP_011519863.1:p.Val88Glu
XR_931825.1:n.2445T>A
XM_011521561.2:c.263T>A	XP_011519863.1:p.Val88Glu
NM_005585.5:c.1046T>A MANE Select	NP_005576.3:p.Val349Glu
NR_027654.2:n.2201T>A