Canonical Allele Identifier: CA490907716

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703309-T-C
• MyVariant Identifiers: chr15:g.66995647T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703309T>C , CM000677.2:g.66703309T>C	GRCh38
NC_000015.9:g.66995647T>C , CM000677.1:g.66995647T>C	GRCh37
NC_000015.8:g.64782701T>C	NCBI36
NG_012244.1:g.5974T>C
NG_012244.2:g.5974T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.51T>C MANE Select	ENSP00000288840.5:p.Arg17=
ENST00000288840.9:c.51T>C	ENSP00000288840.5:p.Arg17=
ENST00000557916.5:c.51T>C	ENSP00000452955.1:p.Arg17=
ENST00000612349.1:n.233T>C
NM_005585.4:c.51T>C	NP_005576.3:p.Arg17=
NR_027654.1:n.974T>C
XR_931825.1:n.1210T>C
XR_931826.1:n.1210T>C
XR_931827.1:n.1210T>C
XR_931827.2:n.1200T>C
NM_005585.5:c.51T>C MANE Select	NP_005576.3:p.Arg17=
NR_027654.2:n.1074T>C