Canonical Allele Identifier: CA387790748

Gene: KL

Linked Data

• gnomAD v4: 13-33053971-A-T
• MyVariant Identifiers: chr13:g.33628108A>T (hg19) ; chr13:g.33053971A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33053971A>T , CM000675.2:g.33053971A>T	GRCh38
NC_000013.10:g.33628108A>T , CM000675.1:g.33628108A>T	GRCh37
NC_000013.9:g.32526108A>T	NCBI36
NG_011485.1:g.42538A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1024A>T MANE Select	ENSP00000369442.3:p.Lys342Ter
ENST00000380099.3:c.1024A>T	ENSP00000369442.3:p.Lys342Ter
ENST00000487852.1:n.1032A>T
NM_004795.3:c.1024A>T	NP_004786.2:p.Lys342Ter
XM_006719895.1:c.103A>T	XP_006719958.1:p.Lys35Ter
XM_006719895.2:c.103A>T	XP_006719958.1:p.Lys35Ter
NM_004795.4:c.1024A>T MANE Select	NP_004786.2:p.Lys342Ter