Canonical Allele Identifier: CA3327207
Community Standard Title: NM_000791.4(DHFR):c.303T>C (p.Thr101=)
Gene: DHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80637949A>G , CM000667.2:g.80637949A>G GRCh38
NC_000005.9:g.79933768A>G , CM000667.1:g.79933768A>G GRCh37
NC_000005.8:g.79969524A>G NCBI36
NG_023304.1:g.22033T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.303T>C MANE Select NP_000782.1:p.Thr101=
ENST00000439211.7:c.303T>C MANE Select ENSP00000396308.2:p.Thr101=
NM_000791.3:c.303T>C NP_000782.1:p.Thr101=
NM_001290354.1:c.147T>C NP_001277283.1:p.Thr49=
NM_001290354.2:c.147T>C NP_001277283.1:p.Thr49=
NM_001290357.1:c.303T>C NP_001277286.1:p.Thr101=
NM_001290357.2:c.303T>C NP_001277286.1:p.Thr101=
NR_110936.1:n.685-3957T>C
NR_110936.2:n.687-3957T>C
ENST00000439211.6:c.303T>C ENSP00000396308.2:p.Thr101=
ENST00000504396.1:c.147T>C ENSP00000421334.1:p.Thr49=
ENST00000505337.5:c.303T>C ENSP00000426474.1:p.Thr101=
ENST00000508282.1:n.261T>C
ENST00000511032.5:c.303T>C ENSP00000422732.1:p.Thr101=
ENST00000513048.5:n.251-3957T>C