Canonical Allele Identifier: CA2629100803

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703179-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703179A>C , CM000677.2:g.66703179A>C	GRCh38
NC_000015.9:g.66995517A>C , CM000677.1:g.66995517A>C	GRCh37
NC_000015.8:g.64782571A>C	NCBI36
NG_012244.1:g.5844A>C
NG_012244.2:g.5844A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-80A>C MANE Select	ENSP00000288840.5:n.-80A>C
ENST00000288840.9:c.-80A>C	ENSP00000288840.5:n.-80A>C
ENST00000612349.1:n.103A>C
NM_005585.4:c.-80A>C	NP_005576.3:n.-80A>C
NR_027654.1:n.844A>C
XR_931825.1:n.1080A>C
XR_931826.1:n.1080A>C
XR_931827.1:n.1080A>C
XR_931827.2:n.1070A>C
NM_005585.5:c.-80A>C MANE Select	NP_005576.3:n.-80A>C
NR_027654.2:n.944A>C