Linked Data
dbSNP Id:
rs1317504540
gnomAD v4:
X-53534600-C-A
MyVariant Identifiers:
chrX:g.53561561C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53534600C>A , CM000685.2:g.53534600C>A | GRCh38 |
| NC_000023.10:g.53561561C>A , CM000685.1:g.53561561C>A | GRCh37 |
| NC_000023.9:g.53578286C>A | NCBI36 |
| NG_016261.2:g.157134G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.12531G>T | ENSP00000515693.1:p.Leu4177= | |
| ENST00000262854.11:c.12747G>T MANE Select | ENSP00000262854.6:p.Leu4249= | |
| ENST00000262854.10:c.12747G>T | ENSP00000262854.6:p.Leu4249= | |
| ENST00000342160.7:c.12747G>T | ENSP00000340648.3:p.Leu4249= | |
| ENST00000426907.5:c.3214G>T | ||
| ENST00000488459.1:n.60G>T | ||
| ENST00000612484.4:c.12720G>T | ENSP00000479451.1:p.Leu4240= | |
| NM_031407.6:c.12747G>T | NP_113584.3:p.Leu4249= | |
| XM_005261965.2:c.12747G>T | XP_005262022.1:p.Leu4249= | |
| XM_011530746.1:c.12996G>T | XP_011529048.1:p.Leu4332= | |
| XM_011530747.1:c.12996G>T | XP_011529049.1:p.Leu4332= | |
| XM_011530748.1:c.12996G>T | XP_011529050.1:p.Leu4332= | |
| XM_011530749.1:c.12996G>T | XP_011529051.1:p.Leu4332= | |
| XM_011530750.1:c.12996G>T | XP_011529052.1:p.Leu4332= | |
| XM_011530751.1:c.12996G>T | XP_011529053.1:p.Leu4332= | |
| XM_011530752.1:c.12993G>T | XP_011529054.1:p.Leu4331= | |
| XM_011530753.1:c.12951G>T | XP_011529055.1:p.Leu4317= | |
| XM_011530754.1:c.12948G>T | XP_011529056.1:p.Leu4316= | |
| XM_011530755.1:c.12945G>T | XP_011529057.1:p.Leu4315= | |
| XM_011530756.1:c.12897G>T | XP_011529058.1:p.Leu4299= | |
| XM_011530757.1:c.12594G>T | XP_011529059.1:p.Leu4198= | |
| XM_005261965.4:c.12747G>T | XP_005262022.1:p.Leu4249= | |
| XM_011530751.2:c.12996G>T | XP_011529053.1:p.Leu4332= | |
| XM_017029191.1:c.13128G>T | XP_016884680.1:p.Leu4376= | |
| XM_017029192.1:c.13125G>T | XP_016884681.1:p.Leu4375= | |
| XM_017029193.1:c.13107G>T | XP_016884682.1:p.Leu4369= | |
| XM_017029194.1:c.13083G>T | XP_016884683.1:p.Leu4361= | |
| XM_017029195.1:c.13080G>T | XP_016884684.1:p.Leu4360= | |
| XM_017029196.1:c.13077G>T | XP_016884685.1:p.Leu4359= | |
| XM_017029197.1:c.13029G>T | XP_016884686.1:p.Leu4343= | |
| XM_017029198.2:c.13017G>T | XP_016884687.1:p.Leu4339= | |
| XM_017029199.1:c.13017G>T | XP_016884688.1:p.Leu4339= | |
| XM_017029200.1:c.13017G>T | XP_016884689.1:p.Leu4339= | |
| XM_017029201.1:c.13017G>T | XP_016884690.1:p.Leu4339= | |
| XM_017029202.1:c.13017G>T | XP_016884691.1:p.Leu4339= | |
| XM_017029203.1:c.13017G>T | XP_016884692.1:p.Leu4339= | |
| XM_017029204.1:c.12879G>T | XP_016884693.1:p.Leu4293= | |
| XM_017029206.1:c.12726G>T | XP_016884695.1:p.Leu4242= | |
| XM_024452322.1:c.12996G>T | XP_024308090.1:p.Leu4332= | |
| NM_031407.7:c.12747G>T MANE Select | NP_113584.3:p.Leu4249= |