Canonical Allele Identifier: CA10465578

Gene: CHM

Linked Data

• dbSNP Id: rs368248509
• ExAC: X:85218946 C / T
• gnomAD v2: X-85218946-C-T
• gnomAD v3: X-85963941-C-T
• gnomAD v4: X-85963941-C-T
• MyVariant Identifiers: chrX:g.85218946C>T (hg19) ; chrX:g.85963941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963941C>T , CM000685.2:g.85963941C>T	GRCh38
NC_000023.10:g.85218946C>T , CM000685.1:g.85218946C>T	GRCh37
NC_000023.9:g.85105602C>T	NCBI36
NG_009874.2:g.88622G>A , LRG_699:g.88622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.426G>A MANE Select	ENSP00000350386.2:p.Glu142=
ENST00000357749.6:c.426G>A	ENSP00000350386.2:p.Glu142=
ENST00000467744.2:n.126+63550G>A
NM_000390.2:c.426G>A , LRG_699t1:c.426G>A	NP_000381.1:p.Glu142=
XM_006724615.2:c.363G>A	XP_006724678.1:p.Glu121=
XM_011530839.1:c.-19G>A	XP_011529141.1:n.-19G>A
NM_000390.3:c.426G>A	NP_000381.1:p.Glu142=
NM_001320959.1:c.-19G>A	NP_001307888.1:n.-19G>A
NM_001362517.1:c.-19G>A	NP_001349446.1:n.-19G>A
NM_001362518.1:c.-19G>A	NP_001349447.1:n.-19G>A
NM_001362519.1:c.-19G>A	NP_001349448.1:n.-19G>A
XM_017029242.2:c.426G>A	XP_016884731.1:p.Glu142=
XM_017029246.1:c.-19G>A	XP_016884735.1:n.-19G>A
XM_024452331.1:c.-19G>A	XP_024308099.1:n.-19G>A
NM_000390.4:c.426G>A MANE Select	NP_000381.1:p.Glu142=
NM_001362518.2:c.-19G>A	NP_001349447.1:n.-19G>A