Canonical Allele Identifier: CA387790659

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33628071A>T (hg19) ; chr13:g.33053934A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33053934A>T , CM000675.2:g.33053934A>T	GRCh38
NC_000013.10:g.33628071A>T , CM000675.1:g.33628071A>T	GRCh37
NC_000013.9:g.32526071A>T	NCBI36
NG_011485.1:g.42501A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.987A>T MANE Select	ENSP00000369442.3:p.Lys329Asn
ENST00000380099.3:c.987A>T	ENSP00000369442.3:p.Lys329Asn
ENST00000487852.1:n.995A>T
NM_004795.3:c.987A>T	NP_004786.2:p.Lys329Asn
XM_006719895.1:c.66A>T	XP_006719958.1:p.Lys22Asn
XM_006719895.2:c.66A>T	XP_006719958.1:p.Lys22Asn
NM_004795.4:c.987A>T MANE Select	NP_004786.2:p.Lys329Asn