Canonical Allele Identifier: CA393201641

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781040-C-G
• MyVariant Identifiers: chr15:g.67073378C>G (hg19) ; chr15:g.66781040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781040C>G , CM000677.2:g.66781040C>G	GRCh38
NC_000015.9:g.67073378C>G , CM000677.1:g.67073378C>G	GRCh37
NC_000015.8:g.64860432C>G	NCBI36
NG_012244.1:g.83705C>G
NG_012244.2:g.83705C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.996C>G MANE Select	ENSP00000288840.5:p.Cys332Trp
ENST00000288840.9:c.996C>G	ENSP00000288840.5:p.Cys332Trp
ENST00000557916.5:c.1128C>G	ENSP00000452955.1:n.1128C>G
ENST00000559931.5:c.300C>G	ENSP00000453446.1:n.300C>G
NM_005585.4:c.996C>G	NP_005576.3:p.Cys332Trp
NR_027654.1:n.2051C>G
XM_011521561.1:c.213C>G	XP_011519863.1:p.Cys71Trp
XR_931825.1:n.2395C>G
XM_011521561.2:c.213C>G	XP_011519863.1:p.Cys71Trp
NM_005585.5:c.996C>G MANE Select	NP_005576.3:p.Cys332Trp
NR_027654.2:n.2151C>G