Canonical Allele Identifier: CA393201629

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781036-G-T
• MyVariant Identifiers: chr15:g.67073374G>T (hg19) ; chr15:g.66781036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781036G>T , CM000677.2:g.66781036G>T	GRCh38
NC_000015.9:g.67073374G>T , CM000677.1:g.67073374G>T	GRCh37
NC_000015.8:g.64860428G>T	NCBI36
NG_012244.1:g.83701G>T
NG_012244.2:g.83701G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.992G>T MANE Select	ENSP00000288840.5:p.Trp331Leu
ENST00000288840.9:c.992G>T	ENSP00000288840.5:p.Trp331Leu
ENST00000557916.5:c.1124G>T	ENSP00000452955.1:n.1124G>T
ENST00000559931.5:c.296G>T	ENSP00000453446.1:n.296G>T
NM_005585.4:c.992G>T	NP_005576.3:p.Trp331Leu
NR_027654.1:n.2047G>T
XM_011521561.1:c.209G>T	XP_011519863.1:p.Trp70Leu
XR_931825.1:n.2391G>T
XM_011521561.2:c.209G>T	XP_011519863.1:p.Trp70Leu
NM_005585.5:c.992G>T MANE Select	NP_005576.3:p.Trp331Leu
NR_027654.2:n.2147G>T