Canonical Allele Identifier: CA517723847

Gene: CHM

Linked Data

• ClinVar Variation Id: 1134323
• ClinVar RCV Id: RCV001469167
• dbSNP Id: rs1930426979
• gnomAD v4: X-85963851-A-G
• MyVariant Identifiers: chrX:g.85218856A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963851A>G , CM000685.2:g.85963851A>G	GRCh38
NC_000023.10:g.85218856A>G , CM000685.1:g.85218856A>G	GRCh37
NC_000023.9:g.85105512A>G	NCBI36
NG_009874.2:g.88712T>C , LRG_699:g.88712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.516T>C MANE Select	ENSP00000350386.2:p.Ala172=
ENST00000357749.6:c.516T>C	ENSP00000350386.2:p.Ala172=
ENST00000467744.2:n.126+63640T>C
NM_000390.2:c.516T>C , LRG_699t1:c.516T>C	NP_000381.1:p.Ala172=
XM_006724615.2:c.453T>C	XP_006724678.1:p.Ala151=
XM_011530839.1:c.72T>C	XP_011529141.1:p.Ala24=
NM_000390.3:c.516T>C	NP_000381.1:p.Ala172=
NM_001320959.1:c.72T>C	NP_001307888.1:p.Ala24=
NM_001362517.1:c.72T>C	NP_001349446.1:p.Ala24=
NM_001362518.1:c.72T>C	NP_001349447.1:p.Ala24=
NM_001362519.1:c.72T>C	NP_001349448.1:p.Ala24=
XM_017029242.2:c.516T>C	XP_016884731.1:p.Ala172=
XM_017029246.1:c.72T>C	XP_016884735.1:p.Ala24=
XM_024452331.1:c.72T>C	XP_024308099.1:p.Ala24=
NM_000390.4:c.516T>C MANE Select	NP_000381.1:p.Ala172=
NM_001362518.2:c.72T>C	NP_001349447.1:p.Ala24=