Canonical Allele Identifier: CA360264788

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80654744C>T , CM000667.2:g.80654744C>T GRCh38
NC_000005.9:g.79950563C>T , CM000667.1:g.79950563C>T GRCh37
NC_000005.8:g.79986319C>T NCBI36
NG_016607.1:g.5270C>T
NG_023304.1:g.5238G>A
NG_016607.2:g.5270C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.-255G>A (DHFR) MANE Select NP_000782.1:n.-255G>A
NM_002439.5:c.17C>T (MSH3) MANE Select NP_002430.3:p.Pro6Leu
ENST00000265081.7:c.17C>T (MSH3) MANE Select ENSP00000265081.6:p.Pro6Leu
ENST00000439211.7:c.-255G>A (DHFR) MANE Select ENSP00000396308.2:n.-255G>A
NM_000791.3:c.-255G>A (DHFR) NP_000782.1:n.-255G>A
NM_001290354.1:c.-361G>A (DHFR) NP_001277283.1:n.-361G>A
NM_001290354.2:c.-361G>A (DHFR) NP_001277283.1:n.-361G>A
NM_001290357.1:c.-255G>A (DHFR) NP_001277286.1:n.-255G>A
NM_001290357.2:c.-255G>A (DHFR) NP_001277286.1:n.-255G>A
NM_002439.4:c.17C>T (MSH3) NP_002430.3:p.Pro6Leu
NR_110936.1:n.238G>A (DHFR)
NR_110936.2:n.240G>A (DHFR)
ENST00000265081.6:c.17C>T (MSH3) ENSP00000265081.6:p.Pro6Leu
ENST00000439211.6:c.-255G>A (DHFR) ENSP00000396308.2:n.-255G>A
ENST00000667069.1:c.17C>T (MSH3) ENSP00000499502.1:p.Pro6Leu
ENST00000670357.1:c.17C>T (MSH3) ENSP00000499791.1:p.Pro6Leu