Canonical Allele Identifier: CA393201868

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781147-T-A
• MyVariant Identifiers: chr15:g.67073485T>A (hg19) ; chr15:g.66781147T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781147T>A , CM000677.2:g.66781147T>A	GRCh38
NC_000015.9:g.67073485T>A , CM000677.1:g.67073485T>A	GRCh37
NC_000015.8:g.64860539T>A	NCBI36
NG_012244.1:g.83812T>A
NG_012244.2:g.83812T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1103T>A MANE Select	ENSP00000288840.5:p.Leu368Gln
ENST00000288840.9:c.1103T>A	ENSP00000288840.5:p.Leu368Gln
ENST00000557916.5:c.1235T>A	ENSP00000452955.1:n.1235T>A
ENST00000559931.5:c.407T>A	ENSP00000453446.1:n.407T>A
NM_005585.4:c.1103T>A	NP_005576.3:p.Leu368Gln
NR_027654.1:n.2158T>A
XM_011521561.1:c.320T>A	XP_011519863.1:p.Leu107Gln
XR_931825.1:n.2502T>A
XM_011521561.2:c.320T>A	XP_011519863.1:p.Leu107Gln
NM_005585.5:c.1103T>A MANE Select	NP_005576.3:p.Leu368Gln
NR_027654.2:n.2258T>A