Canonical Allele Identifier: CA490908880

Gene: SMAD6

Linked Data

• dbSNP Id: rs2140681056
• gnomAD v4: 15-66781028-G-A
• MyVariant Identifiers: chr15:g.67073366G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781028G>A , CM000677.2:g.66781028G>A	GRCh38
NC_000015.9:g.67073366G>A , CM000677.1:g.67073366G>A	GRCh37
NC_000015.8:g.64860420G>A	NCBI36
NG_012244.1:g.83693G>A
NG_012244.2:g.83693G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.984G>A MANE Select	ENSP00000288840.5:p.Pro328=
ENST00000288840.9:c.984G>A	ENSP00000288840.5:p.Pro328=
ENST00000557916.5:c.1116G>A	ENSP00000452955.1:n.1116G>A
ENST00000559931.5:c.288G>A	ENSP00000453446.1:n.288G>A
NM_005585.4:c.984G>A	NP_005576.3:p.Pro328=
NR_027654.1:n.2039G>A
XM_011521561.1:c.201G>A	XP_011519863.1:p.Pro67=
XR_931825.1:n.2383G>A
XM_011521561.2:c.201G>A	XP_011519863.1:p.Pro67=
NM_005585.5:c.984G>A MANE Select	NP_005576.3:p.Pro328=
NR_027654.2:n.2139G>A