Canonical Allele Identifier: CA387792684

Gene: KL

Linked Data

• gnomAD v4: 13-33055245-C-T
• MyVariant Identifiers: chr13:g.33629382C>T (hg19) ; chr13:g.33055245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055245C>T , CM000675.2:g.33055245C>T	GRCh38
NC_000013.10:g.33629382C>T , CM000675.1:g.33629382C>T	GRCh37
NC_000013.9:g.32527382C>T	NCBI36
NG_011485.1:g.43812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1529C>T MANE Select	ENSP00000369442.3:p.Pro510Leu
ENST00000380099.3:c.1529C>T	ENSP00000369442.3:p.Pro510Leu
ENST00000487852.1:n.1537C>T
NM_004795.3:c.1529C>T	NP_004786.2:p.Pro510Leu
XM_006719895.1:c.608C>T	XP_006719958.1:p.Pro203Leu
XM_006719895.2:c.608C>T	XP_006719958.1:p.Pro203Leu
NM_004795.4:c.1529C>T MANE Select	NP_004786.2:p.Pro510Leu