Canonical Allele Identifier: CA413786916

Gene: CHM

Linked Data

• dbSNP Id: rs1382467511
• gnomAD v2: X-85218853-T-A
• gnomAD v4: X-85963848-T-A
• MyVariant Identifiers: chrX:g.85218853T>A (hg19) ; chrX:g.85963848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963848T>A , CM000685.2:g.85963848T>A	GRCh38
NC_000023.10:g.85218853T>A , CM000685.1:g.85218853T>A	GRCh37
NC_000023.9:g.85105509T>A	NCBI36
NG_009874.2:g.88715A>T , LRG_699:g.88715A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.519A>T MANE Select	ENSP00000350386.2:p.Glu173Asp
ENST00000357749.6:c.519A>T	ENSP00000350386.2:p.Glu173Asp
ENST00000467744.2:n.126+63643A>T
NM_000390.2:c.519A>T , LRG_699t1:c.519A>T	NP_000381.1:p.Glu173Asp
XM_006724615.2:c.456A>T	XP_006724678.1:p.Glu152Asp
XM_011530839.1:c.75A>T	XP_011529141.1:p.Glu25Asp
NM_000390.3:c.519A>T	NP_000381.1:p.Glu173Asp
NM_001320959.1:c.75A>T	NP_001307888.1:p.Glu25Asp
NM_001362517.1:c.75A>T	NP_001349446.1:p.Glu25Asp
NM_001362518.1:c.75A>T	NP_001349447.1:p.Glu25Asp
NM_001362519.1:c.75A>T	NP_001349448.1:p.Glu25Asp
XM_017029242.2:c.519A>T	XP_016884731.1:p.Glu173Asp
XM_017029246.1:c.75A>T	XP_016884735.1:p.Glu25Asp
XM_024452331.1:c.75A>T	XP_024308099.1:p.Glu25Asp
NM_000390.4:c.519A>T MANE Select	NP_000381.1:p.Glu173Asp
NM_001362518.2:c.75A>T	NP_001349447.1:p.Glu25Asp