Canonical Allele Identifier: CA490899283

Gene: KBTBD13

Linked Data

• gnomAD v4: 15-65077511-C-T
• MyVariant Identifiers: chr15:g.65369849C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077511C>T , CM000677.2:g.65077511C>T	GRCh38
NC_000015.9:g.65369849C>T , CM000677.1:g.65369849C>T	GRCh37
NC_000015.8:g.63156902C>T	NCBI36
NG_021411.1:g.5696C>T , LRG_682:g.5696C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432196.5:c.696C>T MANE Select	ENSP00000388723.2:p.Asp232=
ENST00000432196.3:c.696C>T	ENSP00000388723.2:p.Asp232=
NM_001101362.2:c.696C>T , LRG_682t1:c.696C>T	NP_001094832.1:p.Asp232=
NM_001101362.3:c.696C>T MANE Select	NP_001094832.1:p.Asp232=