Canonical Allele Identifier: CA2629105714

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780950-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780950A>T , CM000677.2:g.66780950A>T	GRCh38
NC_000015.9:g.67073288A>T , CM000677.1:g.67073288A>T	GRCh37
NC_000015.8:g.64860342A>T	NCBI36
NG_012244.1:g.83615A>T
NG_012244.2:g.83615A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-47A>T MANE Select	ENSP00000288840.5:n.953-47A>T
ENST00000288840.9:c.953-47A>T	ENSP00000288840.5:n.953-47A>T
ENST00000557916.5:c.1085-47A>T	ENSP00000452955.1:n.1085-47A>T
ENST00000559931.5:c.257-47A>T	ENSP00000453446.1:n.257-47A>T
NM_005585.4:c.953-47A>T	NP_005576.3:n.953-47A>T
NR_027654.1:n.2008-47A>T
XM_011521561.1:c.170-47A>T	XP_011519863.1:n.170-47A>T
XR_931825.1:n.2352-47A>T
XM_011521561.2:c.170-47A>T	XP_011519863.1:n.170-47A>T
NM_005585.5:c.953-47A>T MANE Select	NP_005576.3:n.953-47A>T
NR_027654.2:n.2108-47A>T