Canonical Allele Identifier: CA517491281
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1592453
ClinVar RCV Id: RCV002096620
dbSNP Id: rs2148126417
gnomAD v4: X-85879008-T-G
MyVariant Identifiers: chrX:g.85134013T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85879008T>G , CM000685.2:g.85879008T>G GRCh38
NC_000023.10:g.85134013T>G , CM000685.1:g.85134013T>G GRCh37
NC_000023.9:g.85020669T>G NCBI36
NG_009874.2:g.173555A>C , LRG_699:g.173555A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.1566A>C MANE Select ENSP00000350386.2:p.Ser522=
ENST00000357749.6:c.1566A>C ENSP00000350386.2:p.Ser522=
ENST00000467744.2:n.127-15914A>C
NM_000390.2:c.1566A>C , LRG_699t1:c.1566A>C NP_000381.1:p.Ser522=
XM_006724615.2:c.1503A>C XP_006724678.1:p.Ser501=
XM_011530839.1:c.1122A>C XP_011529141.1:p.Ser374=
NM_000390.3:c.1566A>C NP_000381.1:p.Ser522=
NM_001320959.1:c.1122A>C NP_001307888.1:p.Ser374=
NM_001362517.1:c.1122A>C NP_001349446.1:p.Ser374=
NM_001362518.1:c.1122A>C NP_001349447.1:p.Ser374=
NM_001362519.1:c.1122A>C NP_001349448.1:p.Ser374=
XM_017029242.2:c.1566A>C XP_016884731.1:p.Ser522=
XM_017029246.1:c.1122A>C XP_016884735.1:p.Ser374=
XM_024452331.1:c.1122A>C XP_024308099.1:p.Ser374=
NM_000390.4:c.1566A>C MANE Select NP_000381.1:p.Ser522=
NM_001362518.2:c.1122A>C NP_001349447.1:p.Ser374=