Canonical Allele Identifier: CA308278

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421521T>C , CM000664.2:g.219421521T>C	GRCh38
NC_000002.11:g.220286243T>C , CM000664.1:g.220286243T>C	GRCh37
NC_000002.10:g.219994487T>C	NCBI36
NG_008043.1:g.8145T>C , LRG_380:g.8145T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1205T>C MANE Select	NP_001918.3:p.Ile402Thr
ENST00000373960.4:c.1205T>C MANE Select	ENSP00000363071.3:p.Ile402Thr
NM_001382708.1:c.1202T>C	NP_001369637.1:p.Ile401Thr
NM_001382709.1:c.773T>C	NP_001369638.1:p.Ile258Thr
NM_001382710.1:c.1136T>C	NP_001369639.1:p.Ile379Thr
NM_001382711.1:c.1184T>C	NP_001369640.1:p.Ile395Thr
NM_001382712.1:c.1205T>C	NP_001369641.1:p.Ile402Thr
NM_001382713.1:c.935T>C	NP_001369642.1:p.Ile312Thr
NM_001927.3:c.1205T>C , LRG_380t1:c.1205T>C	NP_001918.3:p.Ile402Thr
ENST00000373960.3:c.1205T>C	ENSP00000363071.3:p.Ile402Thr
ENST00000477226.5:n.677T>C
ENST00000477226.6:n.679T>C
ENST00000492726.1:n.600T>C
ENST00000683013.1:n.593T>C