Canonical Allele Identifier: CA2663250310

Gene: DES

Linked Data

• gnomAD v4: 2-219421199-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421199T>C , CM000664.2:g.219421199T>C	GRCh38
NC_000002.11:g.220285921T>C , CM000664.1:g.220285921T>C	GRCh37
NC_000002.10:g.219994165T>C	NCBI36
NG_008043.1:g.7823T>C , LRG_380:g.7823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.498-141T>C
ENST00000683013.1:n.412-141T>C
ENST00000373960.4:c.1024-141T>C MANE Select	ENSP00000363071.3:n.1024-141T>C
ENST00000373960.3:c.1024-141T>C	ENSP00000363071.3:n.1024-141T>C
ENST00000477226.5:n.496-141T>C
ENST00000492726.1:n.419-141T>C
NM_001927.3:c.1024-141T>C , LRG_380t1:c.1024-141T>C	NP_001918.3:n.1024-141T>C
NM_001927.4:c.1024-141T>C MANE Select	NP_001918.3:n.1024-141T>C
NM_001382708.1:c.1021-141T>C	NP_001369637.1:n.1021-141T>C
NM_001382709.1:c.736-285T>C	NP_001369638.1:n.736-285T>C
NM_001382710.1:c.1024-210T>C	NP_001369639.1:n.1024-210T>C
NM_001382711.1:c.1024-162T>C	NP_001369640.1:n.1024-162T>C
NM_001382712.1:c.1024-141T>C	NP_001369641.1:n.1024-141T>C
NM_001382713.1:c.754-141T>C	NP_001369642.1:n.754-141T>C