Canonical Allele Identifier: CA393201592

Gene: SMAD6

Linked Data

• dbSNP Id: rs747009304
• MyVariant Identifiers: chr15:g.67073358A>C (hg19) ; chr15:g.66781020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781020A>C , CM000677.2:g.66781020A>C	GRCh38
NC_000015.9:g.67073358A>C , CM000677.1:g.67073358A>C	GRCh37
NC_000015.8:g.64860412A>C	NCBI36
NG_012244.1:g.83685A>C
NG_012244.2:g.83685A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.976A>C MANE Select	ENSP00000288840.5:p.Thr326Pro
ENST00000288840.9:c.976A>C	ENSP00000288840.5:p.Thr326Pro
ENST00000557916.5:c.1108A>C	ENSP00000452955.1:n.1108A>C
ENST00000559931.5:c.280A>C	ENSP00000453446.1:n.280A>C
NM_005585.4:c.976A>C	NP_005576.3:p.Thr326Pro
NR_027654.1:n.2031A>C
XM_011521561.1:c.193A>C	XP_011519863.1:p.Thr65Pro
XR_931825.1:n.2375A>C
XM_011521561.2:c.193A>C	XP_011519863.1:p.Thr65Pro
NM_005585.5:c.976A>C MANE Select	NP_005576.3:p.Thr326Pro
NR_027654.2:n.2131A>C