Canonical Allele Identifier: CA393201555

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073341G>C (hg19) ; chr15:g.66781003G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781003G>C , CM000677.2:g.66781003G>C	GRCh38
NC_000015.9:g.67073341G>C , CM000677.1:g.67073341G>C	GRCh37
NC_000015.8:g.64860395G>C	NCBI36
NG_012244.1:g.83668G>C
NG_012244.2:g.83668G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.959G>C MANE Select	ENSP00000288840.5:p.Ser320Thr
ENST00000288840.9:c.959G>C	ENSP00000288840.5:p.Ser320Thr
ENST00000557916.5:c.1091G>C	ENSP00000452955.1:n.1091G>C
ENST00000559931.5:c.263G>C	ENSP00000453446.1:n.263G>C
NM_005585.4:c.959G>C	NP_005576.3:p.Ser320Thr
NR_027654.1:n.2014G>C
XM_011521561.1:c.176G>C	XP_011519863.1:p.Ser59Thr
XR_931825.1:n.2358G>C
XM_011521561.2:c.176G>C	XP_011519863.1:p.Ser59Thr
NM_005585.5:c.959G>C MANE Select	NP_005576.3:p.Ser320Thr
NR_027654.2:n.2114G>C