Canonical Allele Identifier: CA360257241
Community Standard Title: NM_000791.4(DHFR):c.373G>A (p.Ala125Thr)
Gene: DHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80633989C>T , CM000667.2:g.80633989C>T GRCh38
NC_000005.9:g.79929808C>T , CM000667.1:g.79929808C>T GRCh37
NC_000005.8:g.79965564C>T NCBI36
NG_023304.1:g.25993G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.373G>A MANE Select NP_000782.1:p.Ala125Thr
ENST00000439211.7:c.373G>A MANE Select ENSP00000396308.2:p.Ala125Thr
NM_000791.3:c.373G>A NP_000782.1:p.Ala125Thr
NM_001290354.1:c.217G>A NP_001277283.1:p.Ala73Thr
NM_001290354.2:c.217G>A NP_001277283.1:p.Ala73Thr
NM_001290357.1:c.369+3894G>A NP_001277286.1:n.369+3894G>A
NM_001290357.2:c.369+3894G>A NP_001277286.1:n.369+3894G>A
NR_110936.1:n.688G>A
NR_110936.2:n.690G>A
ENST00000439211.6:c.373G>A ENSP00000396308.2:p.Ala125Thr
ENST00000504396.1:c.217G>A ENSP00000421334.1:p.Ala73Thr
ENST00000505337.5:c.373G>A ENSP00000426474.1:p.Ala125Thr
ENST00000508282.1:n.331G>A
ENST00000511032.5:c.369+3894G>A ENSP00000422732.1:n.369+3894G>A
ENST00000513048.5:n.254G>A