Canonical Allele Identifier: CA2184234542

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894546483
• gnomAD v4: 15-66780875-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780875T>G , CM000677.2:g.66780875T>G	GRCh38
NC_000015.9:g.67073213T>G , CM000677.1:g.67073213T>G	GRCh37
NC_000015.8:g.64860267T>G	NCBI36
NG_012244.1:g.83540T>G
NG_012244.2:g.83540T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-122T>G MANE Select	ENSP00000288840.5:n.953-122T>G
ENST00000288840.9:c.953-122T>G	ENSP00000288840.5:n.953-122T>G
ENST00000557916.5:c.1085-122T>G	ENSP00000452955.1:n.1085-122T>G
ENST00000559931.5:c.257-122T>G	ENSP00000453446.1:n.257-122T>G
NM_005585.4:c.953-122T>G	NP_005576.3:n.953-122T>G
NR_027654.1:n.2008-122T>G
XM_011521561.1:c.170-122T>G	XP_011519863.1:n.170-122T>G
XR_931825.1:n.2352-122T>G
XM_011521561.2:c.170-122T>G	XP_011519863.1:n.170-122T>G
NM_005585.5:c.953-122T>G MANE Select	NP_005576.3:n.953-122T>G
NR_027654.2:n.2108-122T>G