Canonical Allele Identifier: CA490908917

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781064-G-T
• MyVariant Identifiers: chr15:g.67073402G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781064G>T , CM000677.2:g.66781064G>T	GRCh38
NC_000015.9:g.67073402G>T , CM000677.1:g.67073402G>T	GRCh37
NC_000015.8:g.64860456G>T	NCBI36
NG_012244.1:g.83729G>T
NG_012244.2:g.83729G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1020G>T MANE Select	ENSP00000288840.5:p.Arg340=
ENST00000288840.9:c.1020G>T	ENSP00000288840.5:p.Arg340=
ENST00000557916.5:c.1152G>T	ENSP00000452955.1:n.1152G>T
ENST00000559931.5:c.324G>T	ENSP00000453446.1:n.324G>T
NM_005585.4:c.1020G>T	NP_005576.3:p.Arg340=
NR_027654.1:n.2075G>T
XM_011521561.1:c.237G>T	XP_011519863.1:p.Arg79=
XR_931825.1:n.2419G>T
XM_011521561.2:c.237G>T	XP_011519863.1:p.Arg79=
NM_005585.5:c.1020G>T MANE Select	NP_005576.3:p.Arg340=
NR_027654.2:n.2175G>T