Canonical Allele Identifier: CA618803139

Gene: SMAD3

Linked Data

• dbSNP Id: rs1326450846
• gnomAD v2: 15-67358238-G-T
• gnomAD v3: 15-67065900-G-T
• gnomAD v4: 15-67065900-G-T
• MyVariant Identifiers: chr15:g.67358238G>T (hg19) ; chr15:g.67065900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065900G>T , CM000677.2:g.67065900G>T	GRCh38
NC_000015.9:g.67358238G>T , CM000677.1:g.67358238G>T	GRCh37
NC_000015.8:g.65145292G>T	NCBI36
NG_011990.1:g.5044G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1956G>T	ENSP00000453082.2:n.-110+1956G>T
ENST00000560424.2:c.-255G>T	ENSP00000455540.2:n.-255G>T
ENST00000327367.9:c.-255G>T MANE Select	ENSP00000332973.4:n.-255G>T
ENST00000327367.8:c.-255G>T	ENSP00000332973.4:n.-255G>T
ENST00000559460.5:c.-110+1956G>T	ENSP00000453082.1:n.-110+1956G>T
NM_005902.3:c.-255G>T	NP_005893.1:n.-255G>T
XM_011521559.1:c.-255G>T	XP_011519861.1:n.-255G>T
NM_005902.4:c.-255G>T MANE Select	NP_005893.1:n.-255G>T