Canonical Allele Identifier: CA413787509

Gene: CHM

Linked Data

• ClinVar Variation Id: 1038457
• ClinVar RCV Id: RCV001341772
• dbSNP Id: rs1924589059
• gnomAD v4: X-85878979-G-T
• MyVariant Identifiers: chrX:g.85133984G>T (hg19) ; chrX:g.85878979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878979G>T , CM000685.2:g.85878979G>T	GRCh38
NC_000023.10:g.85133984G>T , CM000685.1:g.85133984G>T	GRCh37
NC_000023.9:g.85020640G>T	NCBI36
NG_009874.2:g.173584C>A , LRG_699:g.173584C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1595C>A MANE Select	ENSP00000350386.2:p.Thr532Asn
ENST00000357749.6:c.1595C>A	ENSP00000350386.2:p.Thr532Asn
ENST00000467744.2:n.127-15885C>A
NM_000390.2:c.1595C>A , LRG_699t1:c.1595C>A	NP_000381.1:p.Thr532Asn
XM_006724615.2:c.1532C>A	XP_006724678.1:p.Thr511Asn
XM_011530839.1:c.1151C>A	XP_011529141.1:p.Thr384Asn
NM_000390.3:c.1595C>A	NP_000381.1:p.Thr532Asn
NM_001320959.1:c.1151C>A	NP_001307888.1:p.Thr384Asn
NM_001362517.1:c.1151C>A	NP_001349446.1:p.Thr384Asn
NM_001362518.1:c.1151C>A	NP_001349447.1:p.Thr384Asn
NM_001362519.1:c.1151C>A	NP_001349448.1:p.Thr384Asn
XM_017029242.2:c.1595C>A	XP_016884731.1:p.Thr532Asn
XM_017029246.1:c.1151C>A	XP_016884735.1:p.Thr384Asn
XM_024452331.1:c.1151C>A	XP_024308099.1:p.Thr384Asn
NM_000390.4:c.1595C>A MANE Select	NP_000381.1:p.Thr532Asn
NM_001362518.2:c.1151C>A	NP_001349447.1:p.Thr384Asn