Canonical Allele Identifier: CA272018680

Gene: SMAD6

Linked Data

• dbSNP Id: rs989802994
• gnomAD v3: 15-66774156-A-G
• gnomAD v4: 15-66774156-A-G
• MyVariant Identifiers: chr15:g.67066494A>G (hg19) ; chr15:g.66774156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66774156A>G , CM000677.2:g.66774156A>G	GRCh38
NC_000015.9:g.67066494A>G , CM000677.1:g.67066494A>G	GRCh37
NC_000015.8:g.64853548A>G	NCBI36
NG_012244.1:g.76821A>G
NG_012244.2:g.76821A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.953-6841A>G MANE Select	ENSP00000288840.5:n.953-6841A>G
ENST00000288840.9:c.953-6841A>G	ENSP00000288840.5:n.953-6841A>G
ENST00000557916.5:c.1085-6841A>G	ENSP00000452955.1:n.1085-6841A>G
ENST00000559931.5:c.257-6841A>G	ENSP00000453446.1:n.257-6841A>G
NM_005585.4:c.953-6841A>G	NP_005576.3:n.953-6841A>G
NR_027654.1:n.2008-6841A>G
XM_011521561.1:c.170-6841A>G	XP_011519863.1:n.170-6841A>G
XR_931825.1:n.2352-6841A>G
XM_011521561.2:c.170-6841A>G	XP_011519863.1:n.170-6841A>G
NM_005585.5:c.953-6841A>G MANE Select	NP_005576.3:n.953-6841A>G
NR_027654.2:n.2108-6841A>G