Canonical Allele Identifier: CA360264838

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80654761G>T , CM000667.2:g.80654761G>T GRCh38
NC_000005.9:g.79950580G>T , CM000667.1:g.79950580G>T GRCh37
NC_000005.8:g.79986336G>T NCBI36
NG_016607.1:g.5287G>T
NG_023304.1:g.5221C>A
NG_016607.2:g.5287G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.-272C>A (DHFR) MANE Select NP_000782.1:n.-272C>A
NM_002439.5:c.34G>T (MSH3) MANE Select NP_002430.3:p.Ala12Ser
ENST00000265081.7:c.34G>T (MSH3) MANE Select ENSP00000265081.6:p.Ala12Ser
ENST00000439211.7:c.-272C>A (DHFR) MANE Select ENSP00000396308.2:n.-272C>A
NM_000791.3:c.-272C>A (DHFR) NP_000782.1:n.-272C>A
NM_001290354.1:c.-378C>A (DHFR) NP_001277283.1:n.-378C>A
NM_001290354.2:c.-378C>A (DHFR) NP_001277283.1:n.-378C>A
NM_001290357.1:c.-272C>A (DHFR) NP_001277286.1:n.-272C>A
NM_001290357.2:c.-272C>A (DHFR) NP_001277286.1:n.-272C>A
NM_002439.4:c.34G>T (MSH3) NP_002430.3:p.Ala12Ser
NR_110936.1:n.221C>A (DHFR)
NR_110936.2:n.223C>A (DHFR)
ENST00000265081.6:c.34G>T (MSH3) ENSP00000265081.6:p.Ala12Ser
ENST00000439211.6:c.-272C>A (DHFR) ENSP00000396308.2:n.-272C>A
ENST00000667069.1:c.34G>T (MSH3) ENSP00000499502.1:p.Ala12Ser
ENST00000670357.1:c.34G>T (MSH3) ENSP00000499791.1:p.Ala12Ser