Canonical Allele Identifier: CA387790794

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33628129C>G (hg19) ; chr13:g.33053992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33053992C>G , CM000675.2:g.33053992C>G	GRCh38
NC_000013.10:g.33628129C>G , CM000675.1:g.33628129C>G	GRCh37
NC_000013.9:g.32526129C>G	NCBI36
NG_011485.1:g.42559C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1045C>G MANE Select	ENSP00000369442.3:p.Leu349Val
ENST00000380099.3:c.1045C>G	ENSP00000369442.3:p.Leu349Val
ENST00000487852.1:n.1053C>G
NM_004795.3:c.1045C>G	NP_004786.2:p.Leu349Val
XM_006719895.1:c.124C>G	XP_006719958.1:p.Leu42Val
XM_006719895.2:c.124C>G	XP_006719958.1:p.Leu42Val
NM_004795.4:c.1045C>G MANE Select	NP_004786.2:p.Leu349Val