Canonical Allele Identifier: CA387790868

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33628162A>T (hg19) ; chr13:g.33054025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33054025A>T , CM000675.2:g.33054025A>T	GRCh38
NC_000013.10:g.33628162A>T , CM000675.1:g.33628162A>T	GRCh37
NC_000013.9:g.32526162A>T	NCBI36
NG_011485.1:g.42592A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380099.4:c.1078A>T MANE Select	ENSP00000369442.3:p.Ile360Phe
ENST00000380099.3:c.1078A>T	ENSP00000369442.3:p.Ile360Phe
ENST00000487852.1:n.1086A>T
NM_004795.3:c.1078A>T	NP_004786.2:p.Ile360Phe
XM_006719895.1:c.157A>T	XP_006719958.1:p.Ile53Phe
XM_006719895.2:c.157A>T	XP_006719958.1:p.Ile53Phe
NM_004795.4:c.1078A>T MANE Select	NP_004786.2:p.Ile360Phe