Linked Data
dbSNP Id:
rs907145475
gnomAD v3:
X-77652410-T-A
gnomAD v4:
X-77652410-T-A
MyVariant Identifiers:
chrX:g.77652410T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652410T>A , CM000685.2:g.77652410T>A | GRCh38 |
| NC_000023.10:g.76907900T>A , CM000685.1:g.76907900T>A | GRCh37 |
| NC_000023.9:g.76794556T>A | NCBI36 |
| NG_008838.2:g.138812A>T | |
| NG_008838.3:g.138860A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4318-57A>T MANE Select | ENSP00000362441.4:n.4318-57A>T | |
| ENST00000373344.9:c.4318-57A>T | ENSP00000362441.4:n.4318-57A>T | |
| ENST00000395603.7:c.4204-57A>T | ENSP00000378967.3:n.4204-57A>T | |
| ENST00000480283.5:c.*3946-57A>T | ENSP00000480196.1:n.*3946-57A>T | |
| NM_000489.4:c.4318-57A>T | NP_000480.3:n.4318-57A>T | |
| NM_138270.3:c.4204-57A>T | NP_612114.2:n.4204-57A>T | |
| XM_005262153.3:c.4315-57A>T | XP_005262210.2:n.4315-57A>T | |
| XM_005262154.3:c.4231-57A>T | XP_005262211.2:n.4231-57A>T | |
| XM_005262155.3:c.4201-57A>T | XP_005262212.2:n.4201-57A>T | |
| XM_005262156.3:c.4153-57A>T | XP_005262213.2:n.4153-57A>T | |
| XM_005262157.3:c.4114-57A>T | XP_005262214.2:n.4114-57A>T | |
| XM_006724666.2:c.4201-57A>T | XP_006724729.1:n.4201-57A>T | |
| XM_006724667.2:c.4039-57A>T | XP_006724730.1:n.4039-57A>T | |
| XM_006724668.2:c.4318-57A>T | XP_006724731.1:n.4318-57A>T | |
| XR_938400.1:n.4586-57A>T | ||
| NM_000489.5:c.4318-57A>T | NP_000480.3:n.4318-57A>T | |
| XM_005262153.5:c.4315-57A>T | XP_005262210.2:n.4315-57A>T | |
| XM_005262154.5:c.4231-57A>T | XP_005262211.2:n.4231-57A>T | |
| XM_005262155.4:c.4201-57A>T | XP_005262212.2:n.4201-57A>T | |
| XM_005262156.4:c.4153-57A>T | XP_005262213.2:n.4153-57A>T | |
| XM_005262157.5:c.4114-57A>T | XP_005262214.2:n.4114-57A>T | |
| XM_006724666.4:c.4201-57A>T | XP_006724729.1:n.4201-57A>T | |
| XM_006724667.3:c.4039-57A>T | XP_006724730.1:n.4039-57A>T | |
| XM_006724668.3:c.4318-57A>T | XP_006724731.1:n.4318-57A>T | |
| XM_017029601.2:c.4228-57A>T | XP_016885090.1:n.4228-57A>T | |
| XM_017029602.1:c.4198-57A>T | XP_016885091.1:n.4198-57A>T | |
| XM_017029603.1:c.4150-57A>T | XP_016885092.1:n.4150-57A>T | |
| XM_017029604.2:c.4117-57A>T | XP_016885093.1:n.4117-57A>T | |
| XM_017029605.1:c.4114-57A>T | XP_016885094.1:n.4114-57A>T | |
| XM_017029606.2:c.4087-57A>T | XP_016885095.1:n.4087-57A>T | |
| XM_017029607.2:c.4084-57A>T | XP_016885096.1:n.4084-57A>T | |
| XM_017029608.2:c.4036-57A>T | XP_016885097.1:n.4036-57A>T | |
| XM_017029609.1:c.4000-57A>T | XP_016885098.1:n.4000-57A>T | |
| XM_017029610.1:c.3997-57A>T | XP_016885099.1:n.3997-57A>T | |
| XM_017029611.1:c.3952-57A>T | XP_016885100.1:n.3952-57A>T | |
| XR_001755700.2:n.4543-57A>T | ||
| NM_138270.4:c.4204-57A>T | NP_612114.2:n.4204-57A>T | |
| NM_000489.6:c.4318-57A>T MANE Select | NP_000480.3:n.4318-57A>T | |
| NM_138270.5:c.4204-57A>T | NP_612114.2:n.4204-57A>T |