Canonical Allele Identifier: CA2579616540

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534476-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534476T>G , CM000685.2:g.53534476T>G	GRCh38
NC_000023.10:g.53561437T>G , CM000685.1:g.53561437T>G	GRCh37
NC_000023.9:g.53578162T>G	NCBI36
NG_016261.2:g.157258A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12615+40A>C	ENSP00000515693.1:n.12615+40A>C
ENST00000262854.11:c.12831+40A>C MANE Select	ENSP00000262854.6:n.12831+40A>C
ENST00000262854.10:c.12831+40A>C	ENSP00000262854.6:n.12831+40A>C
ENST00000342160.7:c.12831+40A>C	ENSP00000340648.3:n.12831+40A>C
ENST00000426907.5:c.3298+40A>C
ENST00000488459.1:n.144+40A>C
ENST00000612484.4:c.12804+40A>C	ENSP00000479451.1:n.12804+40A>C
NM_031407.6:c.12831+40A>C	NP_113584.3:n.12831+40A>C
XM_005261965.2:c.12831+40A>C	XP_005262022.1:n.12831+40A>C
XM_011530746.1:c.13080+40A>C	XP_011529048.1:n.13080+40A>C
XM_011530747.1:c.13080+40A>C	XP_011529049.1:n.13080+40A>C
XM_011530748.1:c.13080+40A>C	XP_011529050.1:n.13080+40A>C
XM_011530749.1:c.13080+40A>C	XP_011529051.1:n.13080+40A>C
XM_011530750.1:c.13080+40A>C	XP_011529052.1:n.13080+40A>C
XM_011530751.1:c.13080+40A>C	XP_011529053.1:n.13080+40A>C
XM_011530752.1:c.13077+40A>C	XP_011529054.1:n.13077+40A>C
XM_011530753.1:c.13035+40A>C	XP_011529055.1:n.13035+40A>C
XM_011530754.1:c.13032+40A>C	XP_011529056.1:n.13032+40A>C
XM_011530755.1:c.13029+40A>C	XP_011529057.1:n.13029+40A>C
XM_011530756.1:c.12981+40A>C	XP_011529058.1:n.12981+40A>C
XM_011530757.1:c.12678+40A>C	XP_011529059.1:n.12678+40A>C
XM_005261965.4:c.12831+40A>C	XP_005262022.1:n.12831+40A>C
XM_011530751.2:c.13080+40A>C	XP_011529053.1:n.13080+40A>C
XM_017029191.1:c.13212+40A>C	XP_016884680.1:n.13212+40A>C
XM_017029192.1:c.13209+40A>C	XP_016884681.1:n.13209+40A>C
XM_017029193.1:c.13191+40A>C	XP_016884682.1:n.13191+40A>C
XM_017029194.1:c.13167+40A>C	XP_016884683.1:n.13167+40A>C
XM_017029195.1:c.13164+40A>C	XP_016884684.1:n.13164+40A>C
XM_017029196.1:c.13161+40A>C	XP_016884685.1:n.13161+40A>C
XM_017029197.1:c.13113+40A>C	XP_016884686.1:n.13113+40A>C
XM_017029198.2:c.13101+40A>C	XP_016884687.1:n.13101+40A>C
XM_017029199.1:c.13101+40A>C	XP_016884688.1:n.13101+40A>C
XM_017029200.1:c.13101+40A>C	XP_016884689.1:n.13101+40A>C
XM_017029201.1:c.13101+40A>C	XP_016884690.1:n.13101+40A>C
XM_017029202.1:c.13101+40A>C	XP_016884691.1:n.13101+40A>C
XM_017029203.1:c.13101+40A>C	XP_016884692.1:n.13101+40A>C
XM_017029204.1:c.12963+40A>C	XP_016884693.1:n.12963+40A>C
XM_017029206.1:c.12810+40A>C	XP_016884695.1:n.12810+40A>C
XM_024452322.1:c.13080+40A>C	XP_024308090.1:n.13080+40A>C
NM_031407.7:c.12831+40A>C MANE Select	NP_113584.3:n.12831+40A>C