Canonical Allele Identifier: CA393201573

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073349C>A (hg19) ; chr15:g.66781011C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781011C>A , CM000677.2:g.66781011C>A	GRCh38
NC_000015.9:g.67073349C>A , CM000677.1:g.67073349C>A	GRCh37
NC_000015.8:g.64860403C>A	NCBI36
NG_012244.1:g.83676C>A
NG_012244.2:g.83676C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.967C>A MANE Select	ENSP00000288840.5:p.Pro323Thr
ENST00000288840.9:c.967C>A	ENSP00000288840.5:p.Pro323Thr
ENST00000557916.5:c.1099C>A	ENSP00000452955.1:n.1099C>A
ENST00000559931.5:c.271C>A	ENSP00000453446.1:n.271C>A
NM_005585.4:c.967C>A	NP_005576.3:p.Pro323Thr
NR_027654.1:n.2022C>A
XM_011521561.1:c.184C>A	XP_011519863.1:p.Pro62Thr
XR_931825.1:n.2366C>A
XM_011521561.2:c.184C>A	XP_011519863.1:p.Pro62Thr
NM_005585.5:c.967C>A MANE Select	NP_005576.3:p.Pro323Thr
NR_027654.2:n.2122C>A