Canonical Allele Identifier: CA413163501

Gene: HUWE1

Linked Data

• dbSNP Id: rs1556947954
• gnomAD v2: X-53595734-T-A
• gnomAD v4: X-53568774-T-A
• MyVariant Identifiers: chrX:g.53595734T>A (hg19) ; chrX:g.53568774T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53568774T>A , CM000685.2:g.53568774T>A	GRCh38
NC_000023.10:g.53595734T>A , CM000685.1:g.53595734T>A	GRCh37
NC_000023.9:g.53612459T>A	NCBI36
NG_016261.2:g.122960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.6622A>T	ENSP00000515693.1:p.Met2208Leu
ENST00000262854.11:c.6625A>T MANE Select	ENSP00000262854.6:p.Met2209Leu
ENST00000262854.10:c.6625A>T	ENSP00000262854.6:p.Met2209Leu
ENST00000342160.7:c.6625A>T	ENSP00000340648.3:p.Met2209Leu
ENST00000612484.4:c.6598A>T	ENSP00000479451.1:p.Met2200Leu
NM_031407.6:c.6625A>T	NP_113584.3:p.Met2209Leu
XM_005261965.2:c.6625A>T	XP_005262022.1:p.Met2209Leu
XM_011530746.1:c.6874A>T	XP_011529048.1:p.Met2292Leu
XM_011530747.1:c.6874A>T	XP_011529049.1:p.Met2292Leu
XM_011530748.1:c.6874A>T	XP_011529050.1:p.Met2292Leu
XM_011530749.1:c.6874A>T	XP_011529051.1:p.Met2292Leu
XM_011530750.1:c.6874A>T	XP_011529052.1:p.Met2292Leu
XM_011530751.1:c.6874A>T	XP_011529053.1:p.Met2292Leu
XM_011530752.1:c.6871A>T	XP_011529054.1:p.Met2291Leu
XM_011530753.1:c.6874A>T	XP_011529055.1:p.Met2292Leu
XM_011530754.1:c.6874A>T	XP_011529056.1:p.Met2292Leu
XM_011530755.1:c.6871A>T	XP_011529057.1:p.Met2291Leu
XM_011530756.1:c.6874A>T	XP_011529058.1:p.Met2292Leu
XM_011530757.1:c.6874A>T	XP_011529059.1:p.Met2292Leu
XM_011530758.1:c.6874A>T	XP_011529060.1:p.Met2292Leu
XR_938360.1:n.7309A>T
XM_005261965.4:c.6625A>T	XP_005262022.1:p.Met2209Leu
XM_011530751.2:c.6874A>T	XP_011529053.1:p.Met2292Leu
XM_017029191.1:c.7006A>T	XP_016884680.1:p.Met2336Leu
XM_017029192.1:c.7003A>T	XP_016884681.1:p.Met2335Leu
XM_017029193.1:c.6985A>T	XP_016884682.1:p.Met2329Leu
XM_017029194.1:c.7006A>T	XP_016884683.1:p.Met2336Leu
XM_017029195.1:c.7006A>T	XP_016884684.1:p.Met2336Leu
XM_017029196.1:c.7003A>T	XP_016884685.1:p.Met2335Leu
XM_017029197.1:c.7006A>T	XP_016884686.1:p.Met2336Leu
XM_017029198.2:c.6895A>T	XP_016884687.1:p.Met2299Leu
XM_017029199.1:c.6895A>T	XP_016884688.1:p.Met2299Leu
XM_017029200.1:c.6895A>T	XP_016884689.1:p.Met2299Leu
XM_017029201.1:c.6895A>T	XP_016884690.1:p.Met2299Leu
XM_017029202.1:c.6895A>T	XP_016884691.1:p.Met2299Leu
XM_017029203.1:c.6895A>T	XP_016884692.1:p.Met2299Leu
XM_017029204.1:c.6757A>T	XP_016884693.1:p.Met2253Leu
XM_017029206.1:c.7006A>T	XP_016884695.1:p.Met2336Leu
XM_024452322.1:c.6874A>T	XP_024308090.1:p.Met2292Leu
NM_031407.7:c.6625A>T MANE Select	NP_113584.3:p.Met2209Leu