Canonical Allele Identifier: CA272023275

Gene: SMAD6

Linked Data

• dbSNP Id: rs964964672
• gnomAD v2: 15-67073422-A-G
• gnomAD v4: 15-66781084-A-G
• MyVariant Identifiers: chr15:g.67073422A>G (hg19) ; chr15:g.66781084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781084A>G , CM000677.2:g.66781084A>G	GRCh38
NC_000015.9:g.67073422A>G , CM000677.1:g.67073422A>G	GRCh37
NC_000015.8:g.64860476A>G	NCBI36
NG_012244.1:g.83749A>G
NG_012244.2:g.83749A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1040A>G MANE Select	ENSP00000288840.5:p.Tyr347Cys
ENST00000288840.9:c.1040A>G	ENSP00000288840.5:p.Tyr347Cys
ENST00000557916.5:c.1172A>G	ENSP00000452955.1:n.1172A>G
ENST00000559931.5:c.344A>G	ENSP00000453446.1:n.344A>G
NM_005585.4:c.1040A>G	NP_005576.3:p.Tyr347Cys
NR_027654.1:n.2095A>G
XM_011521561.1:c.257A>G	XP_011519863.1:p.Tyr86Cys
XR_931825.1:n.2439A>G
XM_011521561.2:c.257A>G	XP_011519863.1:p.Tyr86Cys
NM_005585.5:c.1040A>G MANE Select	NP_005576.3:p.Tyr347Cys
NR_027654.2:n.2195A>G