Canonical Allele Identifier: CA285630753

Gene: KIAA0513

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

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