Canonical Allele Identifier: CA10465550

Gene: CHM

Linked Data

• ClinVar Variation Id: 1164668
• ClinVar RCV Id: RCV001510882
• dbSNP Id: rs748510128
• ExAC: X:85218721 G / A
• gnomAD v2: X-85218721-G-A
• gnomAD v3: X-85963716-G-A
• gnomAD v4: X-85963716-G-A
• MyVariant Identifiers: chrX:g.85218721G>A (hg19) ; chrX:g.85963716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963716G>A , CM000685.2:g.85963716G>A	GRCh38
NC_000023.10:g.85218721G>A , CM000685.1:g.85218721G>A	GRCh37
NC_000023.9:g.85105377G>A	NCBI36
NG_009874.2:g.88847C>T , LRG_699:g.88847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.651C>T MANE Select	ENSP00000350386.2:p.Tyr217=
ENST00000357749.6:c.651C>T	ENSP00000350386.2:p.Tyr217=
ENST00000467744.2:n.126+63775C>T
NM_000390.2:c.651C>T , LRG_699t1:c.651C>T	NP_000381.1:p.Tyr217=
XM_006724615.2:c.588C>T	XP_006724678.1:p.Tyr196=
XM_011530839.1:c.207C>T	XP_011529141.1:p.Tyr69=
NM_000390.3:c.651C>T	NP_000381.1:p.Tyr217=
NM_001320959.1:c.207C>T	NP_001307888.1:p.Tyr69=
NM_001362517.1:c.207C>T	NP_001349446.1:p.Tyr69=
NM_001362518.1:c.207C>T	NP_001349447.1:p.Tyr69=
NM_001362519.1:c.207C>T	NP_001349448.1:p.Tyr69=
XM_017029242.2:c.651C>T	XP_016884731.1:p.Tyr217=
XM_017029246.1:c.207C>T	XP_016884735.1:p.Tyr69=
XM_024452331.1:c.207C>T	XP_024308099.1:p.Tyr69=
NM_000390.4:c.651C>T MANE Select	NP_000381.1:p.Tyr217=
NM_001362518.2:c.207C>T	NP_001349447.1:p.Tyr69=