Canonical Allele Identifier: CA2629114988
Gene: SMAD3 HGNC NCBI

Linked Data

gnomAD v4: 15-67066387-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066387G>T , CM000677.2:g.67066387G>T GRCh38
NC_000015.9:g.67358725G>T , CM000677.1:g.67358725G>T GRCh37
NC_000015.8:g.65145779G>T NCBI36
NG_011990.1:g.5531G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2443G>T ENSP00000453082.2:n.-110+2443G>T
ENST00000560424.2:c.206+27G>T ENSP00000455540.2:n.206+27G>T
ENST00000327367.9:c.206+27G>T MANE Select ENSP00000332973.4:n.206+27G>T
ENST00000327367.8:c.206+27G>T ENSP00000332973.4:n.206+27G>T
ENST00000559460.5:c.-110+2443G>T ENSP00000453082.1:n.-110+2443G>T
NM_005902.3:c.206+27G>T NP_005893.1:n.206+27G>T
XM_011521559.1:c.206+27G>T XP_011519861.1:n.206+27G>T
XM_011521559.3:c.206+27G>T XP_011519861.1:n.206+27G>T
NM_005902.4:c.206+27G>T MANE Select NP_005893.1:n.206+27G>T
Search 100 bp 5'
Search 100 bp 3'