Canonical Allele Identifier: CA10421291

Gene: HUWE1

Linked Data

• dbSNP Id: rs781920201
• ExAC: X:53564701 G / A
• gnomAD v2: X-53564701-G-A
• gnomAD v4: X-53537740-G-A
• MyVariant Identifiers: chrX:g.53564701G>A (hg19) ; chrX:g.53537740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537740G>A , CM000685.2:g.53537740G>A	GRCh38
NC_000023.10:g.53564701G>A , CM000685.1:g.53564701G>A	GRCh37
NC_000023.9:g.53581426G>A	NCBI36
NG_016261.2:g.153994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11781-44C>T	ENSP00000515693.1:n.11781-44C>T
ENST00000262854.11:c.11997-44C>T MANE Select	ENSP00000262854.6:n.11997-44C>T
ENST00000262854.10:c.11997-44C>T	ENSP00000262854.6:n.11997-44C>T
ENST00000342160.7:c.11997-44C>T	ENSP00000340648.3:n.11997-44C>T
ENST00000426907.5:c.2464-44C>T
ENST00000480438.1:n.132-44C>T
ENST00000612484.4:c.11970-44C>T	ENSP00000479451.1:n.11970-44C>T
NM_031407.6:c.11997-44C>T	NP_113584.3:n.11997-44C>T
XM_005261965.2:c.11997-44C>T	XP_005262022.1:n.11997-44C>T
XM_011530746.1:c.12246-44C>T	XP_011529048.1:n.12246-44C>T
XM_011530747.1:c.12246-44C>T	XP_011529049.1:n.12246-44C>T
XM_011530748.1:c.12246-44C>T	XP_011529050.1:n.12246-44C>T
XM_011530749.1:c.12246-44C>T	XP_011529051.1:n.12246-44C>T
XM_011530750.1:c.12246-44C>T	XP_011529052.1:n.12246-44C>T
XM_011530751.1:c.12246-44C>T	XP_011529053.1:n.12246-44C>T
XM_011530752.1:c.12243-44C>T	XP_011529054.1:n.12243-44C>T
XM_011530753.1:c.12201-44C>T	XP_011529055.1:n.12201-44C>T
XM_011530754.1:c.12198-44C>T	XP_011529056.1:n.12198-44C>T
XM_011530755.1:c.12195-44C>T	XP_011529057.1:n.12195-44C>T
XM_011530756.1:c.12147-44C>T	XP_011529058.1:n.12147-44C>T
XM_011530757.1:c.11844-44C>T	XP_011529059.1:n.11844-44C>T
XM_005261965.4:c.11997-44C>T	XP_005262022.1:n.11997-44C>T
XM_011530751.2:c.12246-44C>T	XP_011529053.1:n.12246-44C>T
XM_017029191.1:c.12378-44C>T	XP_016884680.1:n.12378-44C>T
XM_017029192.1:c.12375-44C>T	XP_016884681.1:n.12375-44C>T
XM_017029193.1:c.12357-44C>T	XP_016884682.1:n.12357-44C>T
XM_017029194.1:c.12333-44C>T	XP_016884683.1:n.12333-44C>T
XM_017029195.1:c.12330-44C>T	XP_016884684.1:n.12330-44C>T
XM_017029196.1:c.12327-44C>T	XP_016884685.1:n.12327-44C>T
XM_017029197.1:c.12279-44C>T	XP_016884686.1:n.12279-44C>T
XM_017029198.2:c.12267-44C>T	XP_016884687.1:n.12267-44C>T
XM_017029199.1:c.12267-44C>T	XP_016884688.1:n.12267-44C>T
XM_017029200.1:c.12267-44C>T	XP_016884689.1:n.12267-44C>T
XM_017029201.1:c.12267-44C>T	XP_016884690.1:n.12267-44C>T
XM_017029202.1:c.12267-44C>T	XP_016884691.1:n.12267-44C>T
XM_017029203.1:c.12267-44C>T	XP_016884692.1:n.12267-44C>T
XM_017029204.1:c.12129-44C>T	XP_016884693.1:n.12129-44C>T
XM_017029206.1:c.11976-44C>T	XP_016884695.1:n.11976-44C>T
XM_024452322.1:c.12246-44C>T	XP_024308090.1:n.12246-44C>T
NM_031407.7:c.11997-44C>T MANE Select	NP_113584.3:n.11997-44C>T