Canonical Allele Identifier: CA6944024
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs202226735
ExAC: 13:33628132 C / G
gnomAD v2: 13-33628132-C-G
gnomAD v3: 13-33053995-C-G
gnomAD v4: 13-33053995-C-G
MyVariant Identifiers: chr13:g.33628132C>G (hg19) chr13:g.33053995C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053995C>G , CM000675.2:g.33053995C>G GRCh38
NC_000013.10:g.33628132C>G , CM000675.1:g.33628132C>G GRCh37
NC_000013.9:g.32526132C>G NCBI36
NG_011485.1:g.42562C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1048C>G MANE Select ENSP00000369442.3:p.Pro350Ala
ENST00000380099.3:c.1048C>G ENSP00000369442.3:p.Pro350Ala
ENST00000487852.1:n.1056C>G
NM_004795.3:c.1048C>G NP_004786.2:p.Pro350Ala
XM_006719895.1:c.127C>G XP_006719958.1:p.Pro43Ala
XM_006719895.2:c.127C>G XP_006719958.1:p.Pro43Ala
NM_004795.4:c.1048C>G MANE Select NP_004786.2:p.Pro350Ala
Search 100 bp 5'
Search 100 bp 3'