Canonical Allele Identifier: CA10465581

Gene: CHM

Linked Data

• ClinVar Variation Id: 1587859
• ClinVar RCV Id: RCV002095675
• dbSNP Id: rs776758268
• ExAC: X:85218985 G / A
• gnomAD v2: X-85218985-G-A
• gnomAD v4: X-85963980-G-A
• MyVariant Identifiers: chrX:g.85218985G>A (hg19) ; chrX:g.85963980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963980G>A , CM000685.2:g.85963980G>A	GRCh38
NC_000023.10:g.85218985G>A , CM000685.1:g.85218985G>A	GRCh37
NC_000023.9:g.85105641G>A	NCBI36
NG_009874.2:g.88583C>T , LRG_699:g.88583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.387C>T MANE Select	ENSP00000350386.2:p.Asn129=
ENST00000357749.6:c.387C>T	ENSP00000350386.2:p.Asn129=
ENST00000467744.2:n.126+63511C>T
NM_000390.2:c.387C>T , LRG_699t1:c.387C>T	NP_000381.1:p.Asn129=
XM_006724615.2:c.324C>T	XP_006724678.1:p.Asn108=
XM_011530839.1:c.-58C>T	XP_011529141.1:n.-58C>T
NM_000390.3:c.387C>T	NP_000381.1:p.Asn129=
NM_001320959.1:c.-58C>T	NP_001307888.1:n.-58C>T
NM_001362517.1:c.-58C>T	NP_001349446.1:n.-58C>T
NM_001362518.1:c.-58C>T	NP_001349447.1:n.-58C>T
NM_001362519.1:c.-58C>T	NP_001349448.1:n.-58C>T
XM_017029242.2:c.387C>T	XP_016884731.1:p.Asn129=
XM_017029246.1:c.-58C>T	XP_016884735.1:n.-58C>T
XM_024452331.1:c.-58C>T	XP_024308099.1:n.-58C>T
NM_000390.4:c.387C>T MANE Select	NP_000381.1:p.Asn129=
NM_001362518.2:c.-58C>T	NP_001349447.1:n.-58C>T