Canonical Allele Identifier: CA370916219
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067125T>G , CM000670.2:g.31067125T>G GRCh38
NC_000008.10:g.30924641T>G , CM000670.1:g.30924641T>G GRCh37
NC_000008.9:g.31044183T>G NCBI36
NG_008870.1:g.38864T>G , LRG_524:g.38864T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.597T>G MANE Select ENSP00000298139.5:p.Asn199Lys
ENST00000650667.1:c.*211T>G ENSP00000498593.1:n.*211T>G
ENST00000298139.5:c.597T>G ENSP00000298139.5:p.Asn199Lys
NM_000553.4:c.597T>G , LRG_524t1:c.597T>G NP_000544.2:p.Asn199Lys
XM_011544639.1:c.597T>G XP_011542941.1:p.Asn199Lys
XR_949470.1:n.870T>G
XR_949471.1:n.870T>G
XR_949472.1:n.870T>G
NM_000553.5:c.597T>G NP_000544.2:p.Asn199Lys
XM_011544639.3:c.597T>G XP_011542941.1:p.Asn199Lys
XM_024447265.1:c.387T>G XP_024303033.1:p.Asn129Lys
XR_949470.3:n.898T>G
XR_949471.3:n.898T>G
XR_949472.3:n.898T>G
NM_000553.6:c.597T>G MANE Select NP_000544.2:p.Asn199Lys