Canonical Allele Identifier: CA948127
Gene: TGFBR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91797317T>C , CM000663.2:g.91797317T>C GRCh38
NC_000001.10:g.92262874T>C , CM000663.1:g.92262874T>C GRCh37
NC_000001.9:g.92035462T>C NCBI36
NG_027757.1:g.113686A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.216A>G MANE Select ENSP00000212355.4:p.Ala72=
ENST00000212355.8:c.216A>G ENSP00000212355.4:p.Ala72=
ENST00000370399.6:c.216A>G ENSP00000359426.2:p.Ala72=
ENST00000465892.6:c.216A>G ENSP00000432638.1:p.Ala72=
ENST00000525962.5:c.216A>G ENSP00000436127.1:p.Ala72=
ENST00000532540.5:c.*163A>G ENSP00000434994.1:n.*163A>G
ENST00000533089.5:c.216A>G ENSP00000433477.1:p.Ala72=
NM_001195683.1:c.216A>G NP_001182612.1:p.Ala72=
NM_001195684.1:c.216A>G NP_001182613.1:p.Ala72=
NM_003243.4:c.216A>G NP_003234.2:p.Ala72=
NR_036634.1:n.828A>G
XM_006710867.1:c.216A>G XP_006710930.1:p.Ala72=
XM_006710868.1:c.216A>G XP_006710931.1:p.Ala72=
XM_006710867.2:c.216A>G XP_006710930.1:p.Ala72=
NM_003243.5:c.216A>G MANE Select NP_003234.2:p.Ala72=
NM_001195683.2:c.216A>G NP_001182612.1:p.Ala72=
NR_036634.2:n.700A>G