Canonical Allele Identifier: CA12760087
Community Standard Title: NM_024645.3(ZMAT4):c.-5+20540T>C
Gene: ZMAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.40877143A>G , CM000670.2:g.40877143A>G GRCh38
NC_000008.10:g.40734662A>G , CM000670.1:g.40734662A>G GRCh37
NC_000008.9:g.40853819A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_024645.3:c.-5+20540T>C MANE Select NP_078921.1:n.-5+20540T>C
ENST00000297737.11:c.-5+20540T>C MANE Select ENSP00000297737.6:n.-5+20540T>C
NM_001135731.1:c.-5+20540T>C NP_001129203.1:n.-5+20540T>C
NM_001135731.2:c.-5+20540T>C NP_001129203.1:n.-5+20540T>C
NM_024645.2:c.-5+20540T>C NP_078921.1:n.-5+20540T>C
ENST00000297737.10:c.-5+20540T>C ENSP00000297737.6:n.-5+20540T>C
ENST00000315769.11:c.-5+20540T>C ENSP00000319785.7:n.-5+20540T>C
ENST00000519406.5:c.-5+11352T>C ENSP00000428423.1:n.-5+11352T>C
ENST00000522623.1:c.-5+20540T>C ENSP00000429068.1:n.-5+20540T>C
ENST00000523188.5:c.-5+20540T>C ENSP00000430050.1:n.-5+20540T>C
ENST00000523542.5:c.-5+20540T>C ENSP00000427918.1:n.-5+20540T>C
ENST00000523823.1:n.416+7386T>C
XM_011544643.1:c.26+7386T>C XP_011542945.1:n.26+7386T>C
XM_011544644.1:c.26+7386T>C XP_011542946.1:n.26+7386T>C
XM_011544645.1:c.26+7386T>C XP_011542947.1:n.26+7386T>C
XM_017013836.2:c.-5+20540T>C XP_016869325.1:n.-5+20540T>C
XM_017013837.2:c.-206+20540T>C XP_016869326.1:n.-206+20540T>C
XM_017013838.2:c.-237+20540T>C XP_016869327.1:n.-237+20540T>C
XM_024447275.1:c.-300+20540T>C XP_024303043.1:n.-300+20540T>C
XM_024447276.1:c.-206+20540T>C XP_024303044.1:n.-206+20540T>C
XM_024447277.1:c.-237+20540T>C XP_024303045.1:n.-237+20540T>C