Canonical Allele Identifier: CA360258564
Community Standard Title: NM_000791.4(DHFR):c.335T>G (p.Met112Arg)
Gene: DHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80637917A>C , CM000667.2:g.80637917A>C GRCh38
NC_000005.9:g.79933736A>C , CM000667.1:g.79933736A>C GRCh37
NC_000005.8:g.79969492A>C NCBI36
NG_023304.1:g.22065T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.335T>G MANE Select NP_000782.1:p.Met112Arg
ENST00000439211.7:c.335T>G MANE Select ENSP00000396308.2:p.Met112Arg
NM_000791.3:c.335T>G NP_000782.1:p.Met112Arg
NM_001290354.1:c.179T>G NP_001277283.1:p.Met60Arg
NM_001290354.2:c.179T>G NP_001277283.1:p.Met60Arg
NM_001290357.1:c.335T>G NP_001277286.1:p.Met112Arg
NM_001290357.2:c.335T>G NP_001277286.1:p.Met112Arg
NR_110936.1:n.685-3925T>G
NR_110936.2:n.687-3925T>G
ENST00000439211.6:c.335T>G ENSP00000396308.2:p.Met112Arg
ENST00000504396.1:c.179T>G ENSP00000421334.1:p.Met60Arg
ENST00000505337.5:c.335T>G ENSP00000426474.1:p.Met112Arg
ENST00000508282.1:n.293T>G
ENST00000511032.5:c.335T>G ENSP00000422732.1:p.Met112Arg
ENST00000513048.5:n.251-3925T>G