Canonical Allele Identifier: CA14104582
Gene: SMAD6 HGNC NCBI

Linked Data

dbSNP Id: rs12913975
gnomAD v2: 15-67057161-G-A
gnomAD v3: 15-66764823-G-A
gnomAD v4: 15-66764823-G-A
MyVariant Identifiers: chr15:g.67057161G>A (hg19) chr15:g.66764823G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66764823G>A , CM000677.2:g.66764823G>A GRCh38
NC_000015.9:g.67057161G>A , CM000677.1:g.67057161G>A GRCh37
NC_000015.8:g.64844215G>A NCBI36
NG_012244.1:g.67488G>A
NG_012244.2:g.67488G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000288840.10:c.953-16174G>A MANE Select ENSP00000288840.5:n.953-16174G>A
ENST00000288840.9:c.953-16174G>A ENSP00000288840.5:n.953-16174G>A
ENST00000557916.5:c.1085-16174G>A ENSP00000452955.1:n.1085-16174G>A
ENST00000559931.5:c.257-16174G>A ENSP00000453446.1:n.257-16174G>A
NM_005585.4:c.953-16174G>A NP_005576.3:n.953-16174G>A
NR_027654.1:n.2008-16174G>A
XM_011521561.1:c.170-16174G>A XP_011519863.1:n.170-16174G>A
XR_931825.1:n.2352-16174G>A
XM_011521561.2:c.170-16174G>A XP_011519863.1:n.170-16174G>A
NM_005585.5:c.953-16174G>A MANE Select NP_005576.3:n.953-16174G>A
NR_027654.2:n.2108-16174G>A
Search 100 bp 5'
Search 100 bp 3'