Canonical Allele Identifier: CA6944136
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs772960733
ExAC: 13:33629543 T / C
gnomAD v2: 13-33629543-T-C
gnomAD v3: 13-33055406-T-C
gnomAD v4: 13-33055406-T-C
MyVariant Identifiers: chr13:g.33629543T>C (hg19) chr13:g.33055406T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055406T>C , CM000675.2:g.33055406T>C GRCh38
NC_000013.10:g.33629543T>C , CM000675.1:g.33629543T>C GRCh37
NC_000013.9:g.32527543T>C NCBI36
NG_011485.1:g.43973T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+91T>C MANE Select ENSP00000369442.3:n.1599+91T>C
ENST00000380099.3:c.1599+91T>C ENSP00000369442.3:n.1599+91T>C
ENST00000487852.1:n.1657+41T>C
NM_004795.3:c.1599+91T>C NP_004786.2:n.1599+91T>C
XM_006719895.1:c.678+91T>C XP_006719958.1:n.678+91T>C
XM_006719895.2:c.678+91T>C XP_006719958.1:n.678+91T>C
NM_004795.4:c.1599+91T>C MANE Select NP_004786.2:n.1599+91T>C
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