Canonical Allele Identifier: CA490908861

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781010-T-C
• MyVariant Identifiers: chr15:g.67073348T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781010T>C , CM000677.2:g.66781010T>C	GRCh38
NC_000015.9:g.67073348T>C , CM000677.1:g.67073348T>C	GRCh37
NC_000015.8:g.64860402T>C	NCBI36
NG_012244.1:g.83675T>C
NG_012244.2:g.83675T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.966T>C MANE Select	ENSP00000288840.5:p.Ser322=
ENST00000288840.9:c.966T>C	ENSP00000288840.5:p.Ser322=
ENST00000557916.5:c.1098T>C	ENSP00000452955.1:n.1098T>C
ENST00000559931.5:c.270T>C	ENSP00000453446.1:n.270T>C
NM_005585.4:c.966T>C	NP_005576.3:p.Ser322=
NR_027654.1:n.2021T>C
XM_011521561.1:c.183T>C	XP_011519863.1:p.Ser61=
XR_931825.1:n.2365T>C
XM_011521561.2:c.183T>C	XP_011519863.1:p.Ser61=
NM_005585.5:c.966T>C MANE Select	NP_005576.3:p.Ser322=
NR_027654.2:n.2121T>C