Canonical Allele Identifier: CA7139709
Community Standard Title: NM_004131.6(GZMB):c.731T>C (p.Met244Thr)
Gene: GZMB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24631084A>G , CM000676.2:g.24631084A>G GRCh38
NC_000014.8:g.25100290A>G , CM000676.1:g.25100290A>G GRCh37
NC_000014.7:g.24170130A>G NCBI36
NG_028340.1:g.8143T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004131.6:c.731T>C MANE Select NP_004122.2:p.Met244Thr
ENST00000216341.9:c.731T>C MANE Select ENSP00000216341.4:p.Met244Thr
NM_001346011.1:c.695T>C NP_001332940.1:p.Met232Thr
NM_001346011.2:c.695T>C NP_001332940.1:p.Met232Thr
NM_004131.4:c.731T>C NP_004122.2:p.Met244Thr
NM_004131.5:c.731T>C NP_004122.2:p.Met244Thr
NR_144343.1:n.704T>C
NR_144343.2:n.625T>C
ENST00000216341.8:c.731T>C ENSP00000216341.4:p.Met244Thr
ENST00000382540.5:c.596T>C ENSP00000371980.1:p.Met199Thr
ENST00000382542.5:c.596T>C ENSP00000371982.2:p.Met199Thr
ENST00000415355.7:c.695T>C ENSP00000387385.3:p.Met232Thr
ENST00000532263.5:c.447T>C ENSP00000432074.1:n.447T>C
ENST00000554242.5:c.595T>C ENSP00000450535.1:n.595T>C
ENST00000616551.1:c.446T>C ENSP00000479643.1:p.Met149Thr
XM_011536685.1:c.695T>C XP_011534987.1:p.Met232Thr