Canonical Allele Identifier: CA370928270

Gene: WRN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31090944T>C , CM000670.2:g.31090944T>C	GRCh38
NC_000008.10:g.30948460T>C , CM000670.1:g.30948460T>C	GRCh37
NC_000008.9:g.31068002T>C	NCBI36
NG_008870.1:g.62683T>C , LRG_524:g.62683T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000553.6:c.1829+2T>C MANE Select	NP_000544.2:n.1829+2T>C
ENST00000298139.7:c.1829+2T>C MANE Select	ENSP00000298139.5:n.1829+2T>C
NM_000553.4:c.1829+2T>C , LRG_524t1:c.1829+2T>C	NP_000544.2:n.1829+2T>C
NM_000553.5:c.1829+2T>C	NP_000544.2:n.1829+2T>C
ENST00000298139.5:c.1829+2T>C	ENSP00000298139.5:n.1829+2T>C
ENST00000521620.5:n.462+2T>C
ENST00000650667.1:c.*1443+2T>C	ENSP00000498593.1:n.*1443+2T>C
XM_011544639.1:c.1748+2T>C	XP_011542941.1:n.1748+2T>C
XM_011544639.3:c.1748+2T>C	XP_011542941.1:n.1748+2T>C
XM_011544640.1:c.230+2T>C	XP_011542942.1:n.230+2T>C
XM_024447265.1:c.1619+2T>C	XP_024303033.1:n.1619+2T>C
XR_949470.1:n.2102+2T>C
XR_949470.3:n.2130+2T>C
XR_949471.1:n.2102+2T>C
XR_949471.3:n.2130+2T>C
XR_949472.1:n.2102+2T>C
XR_949472.3:n.2130+2T>C