Canonical Allele Identifier: CA16612323

Gene: WRN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31111718A>C , CM000670.2:g.31111718A>C	GRCh38
NC_000008.10:g.30969234A>C , CM000670.1:g.30969234A>C	GRCh37
NC_000008.9:g.31088776A>C	NCBI36
NG_008870.1:g.83457A>C , LRG_524:g.83457A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000553.6:c.2192A>C MANE Select	NP_000544.2:p.Asp731Ala
ENST00000298139.7:c.2192A>C MANE Select	ENSP00000298139.5:p.Asp731Ala
NM_000553.4:c.2192A>C , LRG_524t1:c.2192A>C	NP_000544.2:p.Asp731Ala
NM_000553.5:c.2192A>C	NP_000544.2:p.Asp731Ala
ENST00000298139.5:c.2192A>C	ENSP00000298139.5:p.Asp731Ala
ENST00000521620.5:n.825A>C
ENST00000650667.1:c.*1806A>C	ENSP00000498593.1:n.*1806A>C
XM_011544639.1:c.2111A>C	XP_011542941.1:p.Asp704Ala
XM_011544639.3:c.2111A>C	XP_011542941.1:p.Asp704Ala
XM_011544640.1:c.593A>C	XP_011542942.1:p.Asp198Ala
XM_024447265.1:c.1982A>C	XP_024303033.1:p.Asp661Ala
XR_949470.1:n.2465A>C
XR_949470.3:n.2493A>C
XR_949471.1:n.2465A>C
XR_949471.3:n.2493A>C
XR_949472.1:n.2465A>C
XR_949472.3:n.2493A>C