Canonical Allele Identifier: CA2629115036

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066451-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066451G>C , CM000677.2:g.67066451G>C	GRCh38
NC_000015.9:g.67358789G>C , CM000677.1:g.67358789G>C	GRCh37
NC_000015.8:g.65145843G>C	NCBI36
NG_011990.1:g.5595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2507G>C	ENSP00000453082.2:n.-110+2507G>C
ENST00000560424.2:c.206+91G>C	ENSP00000455540.2:n.206+91G>C
ENST00000327367.9:c.206+91G>C MANE Select	ENSP00000332973.4:n.206+91G>C
ENST00000327367.8:c.206+91G>C	ENSP00000332973.4:n.206+91G>C
ENST00000559460.5:c.-110+2507G>C	ENSP00000453082.1:n.-110+2507G>C
NM_005902.3:c.206+91G>C	NP_005893.1:n.206+91G>C
XM_011521559.1:c.206+91G>C	XP_011519861.1:n.206+91G>C
XM_011521559.3:c.206+91G>C	XP_011519861.1:n.206+91G>C
NM_005902.4:c.206+91G>C MANE Select	NP_005893.1:n.206+91G>C