Canonical Allele Identifier: CA272023034

Gene: SMAD6

Linked Data

• dbSNP Id: rs183565732
• gnomAD v3: 15-66780880-A-G
• gnomAD v4: 15-66780880-A-G
• MyVariant Identifiers: chr15:g.67073218A>G (hg19) ; chr15:g.66780880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780880A>G , CM000677.2:g.66780880A>G	GRCh38
NC_000015.9:g.67073218A>G , CM000677.1:g.67073218A>G	GRCh37
NC_000015.8:g.64860272A>G	NCBI36
NG_012244.1:g.83545A>G
NG_012244.2:g.83545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-117A>G MANE Select	ENSP00000288840.5:n.953-117A>G
ENST00000288840.9:c.953-117A>G	ENSP00000288840.5:n.953-117A>G
ENST00000557916.5:c.1085-117A>G	ENSP00000452955.1:n.1085-117A>G
ENST00000559931.5:c.257-117A>G	ENSP00000453446.1:n.257-117A>G
NM_005585.4:c.953-117A>G	NP_005576.3:n.953-117A>G
NR_027654.1:n.2008-117A>G
XM_011521561.1:c.170-117A>G	XP_011519863.1:n.170-117A>G
XR_931825.1:n.2352-117A>G
XM_011521561.2:c.170-117A>G	XP_011519863.1:n.170-117A>G
NM_005585.5:c.953-117A>G MANE Select	NP_005576.3:n.953-117A>G
NR_027654.2:n.2108-117A>G