Canonical Allele Identifier: CA393201656

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 590965
• ClinVar RCV Id: RCV000770957
• dbSNP Id: rs900988907
• gnomAD v4: 15-66781048-C-A
• MyVariant Identifiers: chr15:g.67073386C>A (hg19) ; chr15:g.66781048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781048C>A , CM000677.2:g.66781048C>A	GRCh38
NC_000015.9:g.67073386C>A , CM000677.1:g.67073386C>A	GRCh37
NC_000015.8:g.64860440C>A	NCBI36
NG_012244.1:g.83713C>A
NG_012244.2:g.83713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1004C>A MANE Select	ENSP00000288840.5:p.Ala335Glu
ENST00000288840.9:c.1004C>A	ENSP00000288840.5:p.Ala335Glu
ENST00000557916.5:c.1136C>A	ENSP00000452955.1:n.1136C>A
ENST00000559931.5:c.308C>A	ENSP00000453446.1:n.308C>A
NM_005585.4:c.1004C>A	NP_005576.3:p.Ala335Glu
NR_027654.1:n.2059C>A
XM_011521561.1:c.221C>A	XP_011519863.1:p.Ala74Glu
XR_931825.1:n.2403C>A
XM_011521561.2:c.221C>A	XP_011519863.1:p.Ala74Glu
NM_005585.5:c.1004C>A MANE Select	NP_005576.3:p.Ala335Glu
NR_027654.2:n.2159C>A