Canonical Allele Identifier: CA516419078

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534129-G-C
• MyVariant Identifiers: chrX:g.53561090G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534129G>C , CM000685.2:g.53534129G>C	GRCh38
NC_000023.10:g.53561090G>C , CM000685.1:g.53561090G>C	GRCh37
NC_000023.9:g.53577815G>C	NCBI36
NG_016261.2:g.157605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12684C>G	ENSP00000515693.1:p.Val4228=
ENST00000262854.11:c.12900C>G MANE Select	ENSP00000262854.6:p.Val4300=
ENST00000262854.10:c.12900C>G	ENSP00000262854.6:p.Val4300=
ENST00000342160.7:c.12900C>G	ENSP00000340648.3:p.Val4300=
ENST00000426907.5:c.3367C>G
ENST00000488459.1:n.213C>G
ENST00000612484.4:c.12873C>G	ENSP00000479451.1:p.Val4291=
NM_031407.6:c.12900C>G	NP_113584.3:p.Val4300=
XM_005261965.2:c.12900C>G	XP_005262022.1:p.Val4300=
XM_011530746.1:c.13149C>G	XP_011529048.1:p.Val4383=
XM_011530747.1:c.13149C>G	XP_011529049.1:p.Val4383=
XM_011530748.1:c.13149C>G	XP_011529050.1:p.Val4383=
XM_011530749.1:c.13149C>G	XP_011529051.1:p.Val4383=
XM_011530750.1:c.13149C>G	XP_011529052.1:p.Val4383=
XM_011530751.1:c.13149C>G	XP_011529053.1:p.Val4383=
XM_011530752.1:c.13146C>G	XP_011529054.1:p.Val4382=
XM_011530753.1:c.13104C>G	XP_011529055.1:p.Val4368=
XM_011530754.1:c.13101C>G	XP_011529056.1:p.Val4367=
XM_011530755.1:c.13098C>G	XP_011529057.1:p.Val4366=
XM_011530756.1:c.13050C>G	XP_011529058.1:p.Val4350=
XM_011530757.1:c.12747C>G	XP_011529059.1:p.Val4249=
XM_005261965.4:c.12900C>G	XP_005262022.1:p.Val4300=
XM_011530751.2:c.13149C>G	XP_011529053.1:p.Val4383=
XM_017029191.1:c.13281C>G	XP_016884680.1:p.Val4427=
XM_017029192.1:c.13278C>G	XP_016884681.1:p.Val4426=
XM_017029193.1:c.13260C>G	XP_016884682.1:p.Val4420=
XM_017029194.1:c.13236C>G	XP_016884683.1:p.Val4412=
XM_017029195.1:c.13233C>G	XP_016884684.1:p.Val4411=
XM_017029196.1:c.13230C>G	XP_016884685.1:p.Val4410=
XM_017029197.1:c.13182C>G	XP_016884686.1:p.Val4394=
XM_017029198.2:c.13170C>G	XP_016884687.1:p.Val4390=
XM_017029199.1:c.13170C>G	XP_016884688.1:p.Val4390=
XM_017029200.1:c.13170C>G	XP_016884689.1:p.Val4390=
XM_017029201.1:c.13170C>G	XP_016884690.1:p.Val4390=
XM_017029202.1:c.13170C>G	XP_016884691.1:p.Val4390=
XM_017029203.1:c.13170C>G	XP_016884692.1:p.Val4390=
XM_017029204.1:c.13032C>G	XP_016884693.1:p.Val4344=
XM_017029206.1:c.12879C>G	XP_016884695.1:p.Val4293=
XM_024452322.1:c.13149C>G	XP_024308090.1:p.Val4383=
NM_031407.7:c.12900C>G MANE Select	NP_113584.3:p.Val4300=