Canonical Allele Identifier: CA393201630

Gene: SMAD6

Linked Data

• dbSNP Id: rs1469513985
• gnomAD v2: 15-67073374-G-A
• gnomAD v4: 15-66781036-G-A
• MyVariant Identifiers: chr15:g.67073374G>A (hg19) ; chr15:g.66781036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781036G>A , CM000677.2:g.66781036G>A	GRCh38
NC_000015.9:g.67073374G>A , CM000677.1:g.67073374G>A	GRCh37
NC_000015.8:g.64860428G>A	NCBI36
NG_012244.1:g.83701G>A
NG_012244.2:g.83701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.992G>A MANE Select	ENSP00000288840.5:p.Trp331Ter
ENST00000288840.9:c.992G>A	ENSP00000288840.5:p.Trp331Ter
ENST00000557916.5:c.1124G>A	ENSP00000452955.1:n.1124G>A
ENST00000559931.5:c.296G>A	ENSP00000453446.1:n.296G>A
NM_005585.4:c.992G>A	NP_005576.3:p.Trp331Ter
NR_027654.1:n.2047G>A
XM_011521561.1:c.209G>A	XP_011519863.1:p.Trp70Ter
XR_931825.1:n.2391G>A
XM_011521561.2:c.209G>A	XP_011519863.1:p.Trp70Ter
NM_005585.5:c.992G>A MANE Select	NP_005576.3:p.Trp331Ter
NR_027654.2:n.2147G>A