Canonical Allele Identifier: CA490898979

Gene: KBTBD13

Linked Data

• gnomAD v4: 15-65077802-G-T
• MyVariant Identifiers: chr15:g.65370140G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077802G>T , CM000677.2:g.65077802G>T	GRCh38
NC_000015.9:g.65370140G>T , CM000677.1:g.65370140G>T	GRCh37
NC_000015.8:g.63157193G>T	NCBI36
NG_021411.1:g.5987G>T , LRG_682:g.5987G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432196.5:c.987G>T MANE Select	ENSP00000388723.2:p.Ala329=
ENST00000432196.3:c.987G>T	ENSP00000388723.2:p.Ala329=
NM_001101362.2:c.987G>T , LRG_682t1:c.987G>T	NP_001094832.1:p.Ala329=
NM_001101362.3:c.987G>T MANE Select	NP_001094832.1:p.Ala329=