Canonical Allele Identifier: CA2184234567

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894547323
• gnomAD v4: 15-66780923-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780923G>T , CM000677.2:g.66780923G>T	GRCh38
NC_000015.9:g.67073261G>T , CM000677.1:g.67073261G>T	GRCh37
NC_000015.8:g.64860315G>T	NCBI36
NG_012244.1:g.83588G>T
NG_012244.2:g.83588G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-74G>T MANE Select	ENSP00000288840.5:n.953-74G>T
ENST00000288840.9:c.953-74G>T	ENSP00000288840.5:n.953-74G>T
ENST00000557916.5:c.1085-74G>T	ENSP00000452955.1:n.1085-74G>T
ENST00000559931.5:c.257-74G>T	ENSP00000453446.1:n.257-74G>T
NM_005585.4:c.953-74G>T	NP_005576.3:n.953-74G>T
NR_027654.1:n.2008-74G>T
XM_011521561.1:c.170-74G>T	XP_011519863.1:n.170-74G>T
XR_931825.1:n.2352-74G>T
XM_011521561.2:c.170-74G>T	XP_011519863.1:n.170-74G>T
NM_005585.5:c.953-74G>T MANE Select	NP_005576.3:n.953-74G>T
NR_027654.2:n.2108-74G>T