Canonical Allele Identifier: CA217038

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425720A>C , CM000664.2:g.219425720A>C	GRCh38
NC_000002.11:g.220290442A>C , CM000664.1:g.220290442A>C	GRCh37
NC_000002.10:g.219998686A>C	NCBI36
NG_008043.1:g.12344A>C , LRG_380:g.12344A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.820A>C
ENST00000683013.1:n.734A>C
ENST00000373960.4:c.1346A>C MANE Select	ENSP00000363071.3:p.Lys449Thr
ENST00000373960.3:c.1346A>C	ENSP00000363071.3:p.Lys449Thr
ENST00000483395.1:n.201A>C
NM_001927.3:c.1346A>C , LRG_380t1:c.1346A>C	NP_001918.3:p.Lys449Thr
NM_001927.4:c.1346A>C MANE Select	NP_001918.3:p.Lys449Thr
NM_001382708.1:c.1343A>C	NP_001369637.1:p.Lys448Thr
NM_001382709.1:c.914A>C	NP_001369638.1:p.Lys305Thr
NM_001382710.1:c.1277A>C	NP_001369639.1:p.Lys426Thr
NM_001382711.1:c.1325A>C	NP_001369640.1:p.Lys442Thr
NM_001382712.1:c.1346A>C	NP_001369641.1:p.Lys449Thr
NM_001382713.1:c.1076A>C	NP_001369642.1:p.Lys359Thr