Canonical Allele Identifier: CA10708709
Gene: EXO1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241848847C>T , CM000663.2:g.241848847C>T GRCh38
NC_000001.10:g.242012149C>T , CM000663.1:g.242012149C>T GRCh37
NC_000001.9:g.240078772C>T NCBI36
NG_029100.1:g.5657C>T
NG_029100.2:g.5657C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366548.8:c.-303C>T MANE Select ENSP00000355506.3:n.-303C>T
ENST00000348581.9:c.-198C>T ENSP00000311873.5:n.-198C>T
ENST00000366548.7:c.-303C>T ENSP00000355506.3:n.-303C>T
ENST00000423131.5:c.-198C>T ENSP00000415531.1:n.-198C>T
ENST00000518483.5:c.-198C>T ENSP00000430251.1:n.-198C>T
ENST00000519225.5:c.-198C>T ENSP00000429720.1:n.-198C>T
ENST00000523590.5:c.-198C>T ENSP00000430082.1:n.-198C>T
NM_003686.4:c.-198C>T NP_003677.4:n.-198C>T
NM_006027.4:c.-198C>T NP_006018.4:n.-198C>T
NM_130398.3:c.-303C>T NP_569082.2:n.-303C>T
XM_005273350.2:c.-198C>T XP_005273407.1:n.-198C>T
XM_006711840.1:c.-306C>T XP_006711903.1:n.-306C>T
XM_011544321.1:c.-198C>T XP_011542623.1:n.-198C>T
XM_011544322.1:c.-198C>T XP_011542624.1:n.-198C>T
XM_011544323.1:c.-306C>T XP_011542625.1:n.-306C>T
XM_011544324.1:c.-306C>T XP_011542626.1:n.-306C>T
XM_011544326.1:c.-306C>T XP_011542628.1:n.-306C>T
XM_011544327.1:c.-306C>T XP_011542629.1:n.-306C>T
XR_949162.1:n.280C>T
NM_001319224.1:c.-198C>T NP_001306153.1:n.-198C>T
XM_006711840.2:c.-306C>T XP_006711903.1:n.-306C>T
XM_011544321.2:c.-198C>T XP_011542623.1:n.-198C>T
XM_011544323.2:c.-306C>T XP_011542625.1:n.-306C>T
XM_011544324.2:c.-306C>T XP_011542626.1:n.-306C>T
XM_017002793.2:c.-198C>T XP_016858282.1:n.-198C>T
NM_130398.4:c.-303C>T MANE Select NP_569082.2:n.-303C>T
NM_001319224.2:c.-198C>T NP_001306153.1:n.-198C>T