Canonical Allele Identifier: CA2629105643

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780877-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780877C>T , CM000677.2:g.66780877C>T	GRCh38
NC_000015.9:g.67073215C>T , CM000677.1:g.67073215C>T	GRCh37
NC_000015.8:g.64860269C>T	NCBI36
NG_012244.1:g.83542C>T
NG_012244.2:g.83542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-120C>T MANE Select	ENSP00000288840.5:n.953-120C>T
ENST00000288840.9:c.953-120C>T	ENSP00000288840.5:n.953-120C>T
ENST00000557916.5:c.1085-120C>T	ENSP00000452955.1:n.1085-120C>T
ENST00000559931.5:c.257-120C>T	ENSP00000453446.1:n.257-120C>T
NM_005585.4:c.953-120C>T	NP_005576.3:n.953-120C>T
NR_027654.1:n.2008-120C>T
XM_011521561.1:c.170-120C>T	XP_011519863.1:n.170-120C>T
XR_931825.1:n.2352-120C>T
XM_011521561.2:c.170-120C>T	XP_011519863.1:n.170-120C>T
NM_005585.5:c.953-120C>T MANE Select	NP_005576.3:n.953-120C>T
NR_027654.2:n.2108-120C>T