Canonical Allele Identifier: CA2629100813

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703183-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703183G>T , CM000677.2:g.66703183G>T	GRCh38
NC_000015.9:g.66995521G>T , CM000677.1:g.66995521G>T	GRCh37
NC_000015.8:g.64782575G>T	NCBI36
NG_012244.1:g.5848G>T
NG_012244.2:g.5848G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-76G>T MANE Select	ENSP00000288840.5:n.-76G>T
ENST00000288840.9:c.-76G>T	ENSP00000288840.5:n.-76G>T
ENST00000612349.1:n.107G>T
NM_005585.4:c.-76G>T	NP_005576.3:n.-76G>T
NR_027654.1:n.848G>T
XR_931825.1:n.1084G>T
XR_931826.1:n.1084G>T
XR_931827.1:n.1084G>T
XR_931827.2:n.1074G>T
NM_005585.5:c.-76G>T MANE Select	NP_005576.3:n.-76G>T
NR_027654.2:n.948G>T