Canonical Allele Identifier: CA387790571
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053909A>T , CM000675.2:g.33053909A>T GRCh38
NC_000013.10:g.33628046A>T , CM000675.1:g.33628046A>T GRCh37
NC_000013.9:g.32526046A>T NCBI36
NG_011485.1:g.42476A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.962A>T MANE Select ENSP00000369442.3:p.Asp321Val
ENST00000380099.3:c.962A>T ENSP00000369442.3:p.Asp321Val
ENST00000487852.1:n.970A>T
NM_004795.3:c.962A>T NP_004786.2:p.Asp321Val
XM_006719895.1:c.41A>T XP_006719958.1:p.Asp14Val
XM_006719895.2:c.41A>T XP_006719958.1:p.Asp14Val
NM_004795.4:c.962A>T MANE Select NP_004786.2:p.Asp321Val