Canonical Allele Identifier: CA393201646

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781043-C-A
• MyVariant Identifiers: chr15:g.67073381C>A (hg19) ; chr15:g.66781043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781043C>A , CM000677.2:g.66781043C>A	GRCh38
NC_000015.9:g.67073381C>A , CM000677.1:g.67073381C>A	GRCh37
NC_000015.8:g.64860435C>A	NCBI36
NG_012244.1:g.83708C>A
NG_012244.2:g.83708C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.999C>A MANE Select	ENSP00000288840.5:p.Ser333Arg
ENST00000288840.9:c.999C>A	ENSP00000288840.5:p.Ser333Arg
ENST00000557916.5:c.1131C>A	ENSP00000452955.1:n.1131C>A
ENST00000559931.5:c.303C>A	ENSP00000453446.1:n.303C>A
NM_005585.4:c.999C>A	NP_005576.3:p.Ser333Arg
NR_027654.1:n.2054C>A
XM_011521561.1:c.216C>A	XP_011519863.1:p.Ser72Arg
XR_931825.1:n.2398C>A
XM_011521561.2:c.216C>A	XP_011519863.1:p.Ser72Arg
NM_005585.5:c.999C>A MANE Select	NP_005576.3:p.Ser333Arg
NR_027654.2:n.2154C>A