Canonical Allele Identifier: CA285630753
Gene: KIAA0513 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.85059142T>C , CM000678.2:g.85059142T>C GRCh38
NC_000016.9:g.85092748T>C , CM000678.1:g.85092748T>C GRCh37
NC_000016.8:g.83650249T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000538274.6:c.-172-7758T>C ENSP00000446439.1:n.-172-7758T>C
ENST00000567328.6:c.-172-7758T>C ENSP00000455544.1:n.-172-7758T>C
ENST00000683363.1:c.-172-7758T>C MANE Select ENSP00000507772.1:n.-172-7758T>C
ENST00000258180.7:c.-172-7758T>C ENSP00000258180.3:n.-172-7758T>C
ENST00000538274.5:c.-172-7758T>C ENSP00000446439.1:n.-172-7758T>C
NM_001286566.1:c.-172-7758T>C NP_001273495.1:n.-172-7758T>C
NM_001297766.1:c.-172-7758T>C NP_001284695.1:n.-172-7758T>C
NM_014732.3:c.-172-7758T>C NP_055547.1:n.-172-7758T>C
XM_005256265.2:c.-172-7758T>C XP_005256322.1:n.-172-7758T>C
XM_011523483.1:c.-172-7758T>C XP_011521785.1:n.-172-7758T>C
XM_005256265.3:c.-172-7758T>C XP_005256322.1:n.-172-7758T>C
XM_017023912.1:c.-172-7758T>C XP_016879401.1:n.-172-7758T>C
NM_001286566.2:c.-172-7758T>C NP_001273495.1:n.-172-7758T>C
NM_001297766.2:c.-172-7758T>C NP_001284695.1:n.-172-7758T>C
NM_001388359.1:c.-172-7758T>C MANE Select NP_001375288.1:n.-172-7758T>C
NM_014732.4:c.-172-7758T>C NP_055547.1:n.-172-7758T>C
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