Canonical Allele Identifier: CA413147205

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561660T>C (hg19) ; chrX:g.53534699T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534699T>C , CM000685.2:g.53534699T>C	GRCh38
NC_000023.10:g.53561660T>C , CM000685.1:g.53561660T>C	GRCh37
NC_000023.9:g.53578385T>C	NCBI36
NG_016261.2:g.157035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12434-2A>G	ENSP00000515693.1:n.12434-2A>G
ENST00000262854.11:c.12650-2A>G MANE Select	ENSP00000262854.6:n.12650-2A>G
ENST00000262854.10:c.12650-2A>G	ENSP00000262854.6:n.12650-2A>G
ENST00000342160.7:c.12650-2A>G	ENSP00000340648.3:n.12650-2A>G
ENST00000426907.5:c.3117-2A>G
ENST00000612484.4:c.12623-2A>G	ENSP00000479451.1:n.12623-2A>G
NM_031407.6:c.12650-2A>G	NP_113584.3:n.12650-2A>G
XM_005261965.2:c.12650-2A>G	XP_005262022.1:n.12650-2A>G
XM_011530746.1:c.12899-2A>G	XP_011529048.1:n.12899-2A>G
XM_011530747.1:c.12899-2A>G	XP_011529049.1:n.12899-2A>G
XM_011530748.1:c.12899-2A>G	XP_011529050.1:n.12899-2A>G
XM_011530749.1:c.12899-2A>G	XP_011529051.1:n.12899-2A>G
XM_011530750.1:c.12899-2A>G	XP_011529052.1:n.12899-2A>G
XM_011530751.1:c.12899-2A>G	XP_011529053.1:n.12899-2A>G
XM_011530752.1:c.12896-2A>G	XP_011529054.1:n.12896-2A>G
XM_011530753.1:c.12854-2A>G	XP_011529055.1:n.12854-2A>G
XM_011530754.1:c.12851-2A>G	XP_011529056.1:n.12851-2A>G
XM_011530755.1:c.12848-2A>G	XP_011529057.1:n.12848-2A>G
XM_011530756.1:c.12800-2A>G	XP_011529058.1:n.12800-2A>G
XM_011530757.1:c.12497-2A>G	XP_011529059.1:n.12497-2A>G
XM_005261965.4:c.12650-2A>G	XP_005262022.1:n.12650-2A>G
XM_011530751.2:c.12899-2A>G	XP_011529053.1:n.12899-2A>G
XM_017029191.1:c.13031-2A>G	XP_016884680.1:n.13031-2A>G
XM_017029192.1:c.13028-2A>G	XP_016884681.1:n.13028-2A>G
XM_017029193.1:c.13010-2A>G	XP_016884682.1:n.13010-2A>G
XM_017029194.1:c.12986-2A>G	XP_016884683.1:n.12986-2A>G
XM_017029195.1:c.12983-2A>G	XP_016884684.1:n.12983-2A>G
XM_017029196.1:c.12980-2A>G	XP_016884685.1:n.12980-2A>G
XM_017029197.1:c.12932-2A>G	XP_016884686.1:n.12932-2A>G
XM_017029198.2:c.12920-2A>G	XP_016884687.1:n.12920-2A>G
XM_017029199.1:c.12920-2A>G	XP_016884688.1:n.12920-2A>G
XM_017029200.1:c.12920-2A>G	XP_016884689.1:n.12920-2A>G
XM_017029201.1:c.12920-2A>G	XP_016884690.1:n.12920-2A>G
XM_017029202.1:c.12920-2A>G	XP_016884691.1:n.12920-2A>G
XM_017029203.1:c.12920-2A>G	XP_016884692.1:n.12920-2A>G
XM_017029204.1:c.12782-2A>G	XP_016884693.1:n.12782-2A>G
XM_017029206.1:c.12629-2A>G	XP_016884695.1:n.12629-2A>G
XM_024452322.1:c.12899-2A>G	XP_024308090.1:n.12899-2A>G
NM_031407.7:c.12650-2A>G MANE Select	NP_113584.3:n.12650-2A>G