Canonical Allele Identifier: CA490908856

Gene: SMAD6

Linked Data

• dbSNP Id: rs1326830939
• gnomAD v2: 15-67073339-C-T
• gnomAD v4: 15-66781001-C-T
• MyVariant Identifiers: chr15:g.67073339C>T (hg19) ; chr15:g.66781001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781001C>T , CM000677.2:g.66781001C>T	GRCh38
NC_000015.9:g.67073339C>T , CM000677.1:g.67073339C>T	GRCh37
NC_000015.8:g.64860393C>T	NCBI36
NG_012244.1:g.83666C>T
NG_012244.2:g.83666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.957C>T MANE Select	ENSP00000288840.5:p.Ala319=
ENST00000288840.9:c.957C>T	ENSP00000288840.5:p.Ala319=
ENST00000557916.5:c.1089C>T	ENSP00000452955.1:n.1089C>T
ENST00000559931.5:c.261C>T	ENSP00000453446.1:n.261C>T
NM_005585.4:c.957C>T	NP_005576.3:p.Ala319=
NR_027654.1:n.2012C>T
XM_011521561.1:c.174C>T	XP_011519863.1:p.Ala58=
XR_931825.1:n.2356C>T
XM_011521561.2:c.174C>T	XP_011519863.1:p.Ala58=
NM_005585.5:c.957C>T MANE Select	NP_005576.3:p.Ala319=
NR_027654.2:n.2112C>T