Canonical Allele Identifier: CA10761053

Linked Data

dbSNP Id: rs1129332
gnomAD v2: 1-2336210-C-T
gnomAD v3: 1-2404771-C-T
gnomAD v4: 1-2404771-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2404771C>T , CM000663.2:g.2404771C>T GRCh38
NC_000001.10:g.2336210C>T , CM000663.1:g.2336210C>T GRCh37
NC_000001.9:g.2326070C>T NCBI36
NG_008342.1:g.12801G>A
NG_016128.1:g.17997C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000288774.8:c.*995G>A (PEX10) ENSP00000288774.3:n.*995G>A
ENST00000447513.7:c.*995G>A (PEX10) MANE Select ENSP00000407922.2:n.*995G>A
ENST00000605895.6:c.*1647C>T (RER1) MANE Select ENSP00000475168.1:n.*1647C>T
ENST00000650293.1:c.1791G>A (PEX10)
ENST00000288774.7:c.*995G>A (PEX10) ENSP00000288774.3:n.*995G>A
ENST00000378513.7:c.*1784C>T (RER1) ENSP00000367774.5:n.*1784C>T
ENST00000605895.5:c.*1647C>T (RER1) ENSP00000475168.1:n.*1647C>T
NM_007033.4:c.*1647C>T (RER1) NP_008964.3:n.*1647C>T
XM_005244713.3:c.*1647C>T (RER1) XP_005244770.2:n.*1647C>T
XM_006710306.2:c.*1647C>T (RER1) XP_006710369.1:n.*1647C>T
XM_011540542.1:c.*1647C>T (RER1) XP_011538844.1:n.*1647C>T
XM_011540543.1:c.*1647C>T (RER1) XP_011538845.1:n.*1647C>T
XM_005244713.4:c.*1647C>T (RER1) XP_005244770.2:n.*1647C>T
XM_011540543.2:c.*1647C>T (RER1) XP_011538845.1:n.*1647C>T
XM_017000131.1:c.*1647C>T (RER1) XP_016855620.1:n.*1647C>T
XM_017000132.1:c.*1647C>T (RER1) XP_016855621.1:n.*1647C>T
XM_017000133.1:c.*1647C>T (RER1) XP_016855622.1:n.*1647C>T
XM_017000134.1:c.*1647C>T (RER1) XP_016855623.1:n.*1647C>T
XM_017000135.1:c.*1647C>T (RER1) XP_016855624.1:n.*1647C>T
NM_007033.5:c.*1647C>T (RER1) MANE Select NP_008964.3:n.*1647C>T
NM_001374425.1:c.*995G>A (PEX10) NP_001361354.1:n.*995G>A
NM_001374426.1:c.*995G>A (PEX10) NP_001361355.1:n.*995G>A
NM_001374427.1:c.*995G>A (PEX10) NP_001361356.1:n.*995G>A
NM_002617.4:c.*995G>A (PEX10) MANE Select NP_002608.1:n.*995G>A
NM_153818.2:c.*995G>A (PEX10) NP_722540.1:n.*995G>A
NR_164636.1:n.2091G>A (PEX10)