Canonical Allele Identifier: CA2575767670

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066449G>A , CM000677.2:g.67066449G>A	GRCh38
NC_000015.9:g.67358787G>A , CM000677.1:g.67358787G>A	GRCh37
NC_000015.8:g.65145841G>A	NCBI36
NG_011990.1:g.5593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2505G>A	ENSP00000453082.2:n.-110+2505G>A
ENST00000560424.2:c.206+89G>A	ENSP00000455540.2:n.206+89G>A
ENST00000327367.9:c.206+89G>A MANE Select	ENSP00000332973.4:n.206+89G>A
ENST00000327367.8:c.206+89G>A	ENSP00000332973.4:n.206+89G>A
ENST00000559460.5:c.-110+2505G>A	ENSP00000453082.1:n.-110+2505G>A
NM_005902.3:c.206+89G>A	NP_005893.1:n.206+89G>A
XM_011521559.1:c.206+89G>A	XP_011519861.1:n.206+89G>A
XM_011521559.3:c.206+89G>A	XP_011519861.1:n.206+89G>A
NM_005902.4:c.206+89G>A MANE Select	NP_005893.1:n.206+89G>A