Canonical Allele Identifier: CA393201703

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781069-G-T
• MyVariant Identifiers: chr15:g.67073407G>T (hg19) ; chr15:g.66781069G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781069G>T , CM000677.2:g.66781069G>T	GRCh38
NC_000015.9:g.67073407G>T , CM000677.1:g.67073407G>T	GRCh37
NC_000015.8:g.64860461G>T	NCBI36
NG_012244.1:g.83734G>T
NG_012244.2:g.83734G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1025G>T MANE Select	ENSP00000288840.5:p.Arg342Leu
ENST00000288840.9:c.1025G>T	ENSP00000288840.5:p.Arg342Leu
ENST00000557916.5:c.1157G>T	ENSP00000452955.1:n.1157G>T
ENST00000559931.5:c.329G>T	ENSP00000453446.1:n.329G>T
NM_005585.4:c.1025G>T	NP_005576.3:p.Arg342Leu
NR_027654.1:n.2080G>T
XM_011521561.1:c.242G>T	XP_011519863.1:p.Arg81Leu
XR_931825.1:n.2424G>T
XM_011521561.2:c.242G>T	XP_011519863.1:p.Arg81Leu
NM_005585.5:c.1025G>T MANE Select	NP_005576.3:p.Arg342Leu
NR_027654.2:n.2180G>T