Canonical Allele Identifier: CA413154659

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564524T>G (hg19) ; chrX:g.53537563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537563T>G , CM000685.2:g.53537563T>G	GRCh38
NC_000023.10:g.53564524T>G , CM000685.1:g.53564524T>G	GRCh37
NC_000023.9:g.53581249T>G	NCBI36
NG_016261.2:g.154171A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11914A>C	ENSP00000515693.1:p.Asn3972His
ENST00000262854.11:c.12130A>C MANE Select	ENSP00000262854.6:p.Asn4044His
ENST00000262854.10:c.12130A>C	ENSP00000262854.6:p.Asn4044His
ENST00000342160.7:c.12130A>C	ENSP00000340648.3:p.Asn4044His
ENST00000426907.5:c.2597A>C
ENST00000480438.1:n.265A>C
ENST00000612484.4:c.12103A>C	ENSP00000479451.1:p.Asn4035His
NM_031407.6:c.12130A>C	NP_113584.3:p.Asn4044His
XM_005261965.2:c.12130A>C	XP_005262022.1:p.Asn4044His
XM_011530746.1:c.12379A>C	XP_011529048.1:p.Asn4127His
XM_011530747.1:c.12379A>C	XP_011529049.1:p.Asn4127His
XM_011530748.1:c.12379A>C	XP_011529050.1:p.Asn4127His
XM_011530749.1:c.12379A>C	XP_011529051.1:p.Asn4127His
XM_011530750.1:c.12379A>C	XP_011529052.1:p.Asn4127His
XM_011530751.1:c.12379A>C	XP_011529053.1:p.Asn4127His
XM_011530752.1:c.12376A>C	XP_011529054.1:p.Asn4126His
XM_011530753.1:c.12334A>C	XP_011529055.1:p.Asn4112His
XM_011530754.1:c.12331A>C	XP_011529056.1:p.Asn4111His
XM_011530755.1:c.12328A>C	XP_011529057.1:p.Asn4110His
XM_011530756.1:c.12280A>C	XP_011529058.1:p.Asn4094His
XM_011530757.1:c.11977A>C	XP_011529059.1:p.Asn3993His
XM_005261965.4:c.12130A>C	XP_005262022.1:p.Asn4044His
XM_011530751.2:c.12379A>C	XP_011529053.1:p.Asn4127His
XM_017029191.1:c.12511A>C	XP_016884680.1:p.Asn4171His
XM_017029192.1:c.12508A>C	XP_016884681.1:p.Asn4170His
XM_017029193.1:c.12490A>C	XP_016884682.1:p.Asn4164His
XM_017029194.1:c.12466A>C	XP_016884683.1:p.Asn4156His
XM_017029195.1:c.12463A>C	XP_016884684.1:p.Asn4155His
XM_017029196.1:c.12460A>C	XP_016884685.1:p.Asn4154His
XM_017029197.1:c.12412A>C	XP_016884686.1:p.Asn4138His
XM_017029198.2:c.12400A>C	XP_016884687.1:p.Asn4134His
XM_017029199.1:c.12400A>C	XP_016884688.1:p.Asn4134His
XM_017029200.1:c.12400A>C	XP_016884689.1:p.Asn4134His
XM_017029201.1:c.12400A>C	XP_016884690.1:p.Asn4134His
XM_017029202.1:c.12400A>C	XP_016884691.1:p.Asn4134His
XM_017029203.1:c.12400A>C	XP_016884692.1:p.Asn4134His
XM_017029204.1:c.12262A>C	XP_016884693.1:p.Asn4088His
XM_017029206.1:c.12109A>C	XP_016884695.1:p.Asn4037His
XM_024452322.1:c.12379A>C	XP_024308090.1:p.Asn4127His
NM_031407.7:c.12130A>C MANE Select	NP_113584.3:p.Asn4044His