Canonical Allele Identifier: CA939083893
Gene: AIP HGNC NCBI

Linked Data

dbSNP Id: rs1865723067
gnomAD v3: 11-67483054-T-C
gnomAD v4: 11-67483054-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67483054T>C , CM000673.2:g.67483054T>C GRCh38
NC_000011.9:g.67250525T>C , CM000673.1:g.67250525T>C GRCh37
NC_000011.8:g.67007101T>C NCBI36
NG_008969.1:g.5021T>C , LRG_460:g.5021T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000528641.7:c.-105T>C ENSP00000434982.3:n.-105T>C
ENST00000682699.1:c.-105T>C ENSP00000507935.1:n.-105T>C
ENST00000279146.8:c.-105T>C MANE Select ENSP00000279146.3:n.-105T>C
ENST00000279146.7:c.-105T>C ENSP00000279146.3:n.-105T>C
ENST00000528641.6:c.-105T>C ENSP00000434982.2:n.-105T>C
ENST00000529797.1:n.6T>C
NM_001302960.1:c.-105T>C NP_001289889.1:n.-105T>C
NM_003977.3:c.-105T>C NP_003968.3:n.-105T>C
XM_024448761.1:c.-105T>C XP_024304529.1:n.-105T>C
NM_003977.4:c.-105T>C MANE Select NP_003968.3:n.-105T>C
NM_001302960.2:c.-105T>C NP_001289889.1:n.-105T>C
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