Canonical Allele Identifier: CA413144206

Gene: HUWE1

Linked Data

• dbSNP Id: rs1556909276
• gnomAD v2: X-53561052-G-A
• gnomAD v4: X-53534091-G-A
• MyVariant Identifiers: chrX:g.53561052G>A (hg19) ; chrX:g.53534091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534091G>A , CM000685.2:g.53534091G>A	GRCh38
NC_000023.10:g.53561052G>A , CM000685.1:g.53561052G>A	GRCh37
NC_000023.9:g.53577777G>A	NCBI36
NG_016261.2:g.157643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12722C>T	ENSP00000515693.1:p.Ala4241Val
ENST00000262854.11:c.12938C>T MANE Select	ENSP00000262854.6:p.Ala4313Val
ENST00000262854.10:c.12938C>T	ENSP00000262854.6:p.Ala4313Val
ENST00000342160.7:c.12938C>T	ENSP00000340648.3:p.Ala4313Val
ENST00000426907.5:c.3405C>T
ENST00000488459.1:n.251C>T
ENST00000612484.4:c.12911C>T	ENSP00000479451.1:p.Ala4304Val
NM_031407.6:c.12938C>T	NP_113584.3:p.Ala4313Val
XM_005261965.2:c.12938C>T	XP_005262022.1:p.Ala4313Val
XM_011530746.1:c.13187C>T	XP_011529048.1:p.Ala4396Val
XM_011530747.1:c.13187C>T	XP_011529049.1:p.Ala4396Val
XM_011530748.1:c.13187C>T	XP_011529050.1:p.Ala4396Val
XM_011530749.1:c.13187C>T	XP_011529051.1:p.Ala4396Val
XM_011530750.1:c.13187C>T	XP_011529052.1:p.Ala4396Val
XM_011530751.1:c.13187C>T	XP_011529053.1:p.Ala4396Val
XM_011530752.1:c.13184C>T	XP_011529054.1:p.Ala4395Val
XM_011530753.1:c.13142C>T	XP_011529055.1:p.Ala4381Val
XM_011530754.1:c.13139C>T	XP_011529056.1:p.Ala4380Val
XM_011530755.1:c.13136C>T	XP_011529057.1:p.Ala4379Val
XM_011530756.1:c.13088C>T	XP_011529058.1:p.Ala4363Val
XM_011530757.1:c.12785C>T	XP_011529059.1:p.Ala4262Val
XM_005261965.4:c.12938C>T	XP_005262022.1:p.Ala4313Val
XM_011530751.2:c.13187C>T	XP_011529053.1:p.Ala4396Val
XM_017029191.1:c.13319C>T	XP_016884680.1:p.Ala4440Val
XM_017029192.1:c.13316C>T	XP_016884681.1:p.Ala4439Val
XM_017029193.1:c.13298C>T	XP_016884682.1:p.Ala4433Val
XM_017029194.1:c.13274C>T	XP_016884683.1:p.Ala4425Val
XM_017029195.1:c.13271C>T	XP_016884684.1:p.Ala4424Val
XM_017029196.1:c.13268C>T	XP_016884685.1:p.Ala4423Val
XM_017029197.1:c.13220C>T	XP_016884686.1:p.Ala4407Val
XM_017029198.2:c.13208C>T	XP_016884687.1:p.Ala4403Val
XM_017029199.1:c.13208C>T	XP_016884688.1:p.Ala4403Val
XM_017029200.1:c.13208C>T	XP_016884689.1:p.Ala4403Val
XM_017029201.1:c.13208C>T	XP_016884690.1:p.Ala4403Val
XM_017029202.1:c.13208C>T	XP_016884691.1:p.Ala4403Val
XM_017029203.1:c.13208C>T	XP_016884692.1:p.Ala4403Val
XM_017029204.1:c.13070C>T	XP_016884693.1:p.Ala4357Val
XM_017029206.1:c.12917C>T	XP_016884695.1:p.Ala4306Val
XM_024452322.1:c.13187C>T	XP_024308090.1:p.Ala4396Val
NM_031407.7:c.12938C>T MANE Select	NP_113584.3:p.Ala4313Val