Canonical Allele Identifier: CA387790615
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33053921-G-C
MyVariant Identifiers: chr13:g.33628058G>C (hg19) chr13:g.33053921G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053921G>C , CM000675.2:g.33053921G>C GRCh38
NC_000013.10:g.33628058G>C , CM000675.1:g.33628058G>C GRCh37
NC_000013.9:g.32526058G>C NCBI36
NG_011485.1:g.42488G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.974G>C MANE Select ENSP00000369442.3:p.Gly325Ala
ENST00000380099.3:c.974G>C ENSP00000369442.3:p.Gly325Ala
ENST00000487852.1:n.982G>C
NM_004795.3:c.974G>C NP_004786.2:p.Gly325Ala
XM_006719895.1:c.53G>C XP_006719958.1:p.Gly18Ala
XM_006719895.2:c.53G>C XP_006719958.1:p.Gly18Ala
NM_004795.4:c.974G>C MANE Select NP_004786.2:p.Gly325Ala
Search 100 bp 5'
Search 100 bp 3'