Canonical Allele Identifier: CA360255533
Community Standard Title: NM_000791.4(DHFR):c.501C>G (p.Leu167=)
Gene: DHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80629150G>C , CM000667.2:g.80629150G>C GRCh38
NC_000005.9:g.79924969G>C , CM000667.1:g.79924969G>C GRCh37
NC_000005.8:g.79960725G>C NCBI36
NG_023304.1:g.30832C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.501C>G MANE Select NP_000782.1:p.Leu167=
ENST00000439211.7:c.501C>G MANE Select ENSP00000396308.2:p.Leu167=
NM_000791.3:c.501C>G NP_000782.1:p.Leu167=
NM_001290354.1:c.345C>G NP_001277283.1:p.Leu115=
NM_001290354.2:c.345C>G NP_001277283.1:p.Leu115=
NM_001290357.1:c.385C>G NP_001277286.1:p.Leu129Val
NM_001290357.2:c.385C>G NP_001277286.1:p.Leu129Val
NR_110936.1:n.816C>G
NR_110936.2:n.818C>G
ENST00000439211.6:c.501C>G ENSP00000396308.2:p.Leu167=
ENST00000504396.1:c.345C>G ENSP00000421334.1:p.Leu115=
ENST00000505337.5:c.501C>G ENSP00000426474.1:p.Leu167=
ENST00000508282.1:n.459C>G
ENST00000511032.5:c.385C>G ENSP00000422732.1:p.Leu129Val
ENST00000513048.5:n.382C>G