Canonical Allele Identifier: CA413787332

Gene: CHM

Linked Data

• ClinVar Variation Id: 1482014
• ClinVar RCV Id: RCV001994382
• dbSNP Id: rs765359472
• MyVariant Identifiers: chrX:g.85219002G>T (hg19) ; chrX:g.85963997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963997G>T , CM000685.2:g.85963997G>T	GRCh38
NC_000023.10:g.85219002G>T , CM000685.1:g.85219002G>T	GRCh37
NC_000023.9:g.85105658G>T	NCBI36
NG_009874.2:g.88566C>A , LRG_699:g.88566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.370C>A MANE Select	ENSP00000350386.2:p.Leu124Ile
ENST00000357749.6:c.370C>A	ENSP00000350386.2:p.Leu124Ile
ENST00000467744.2:n.126+63494C>A
NM_000390.2:c.370C>A , LRG_699t1:c.370C>A	NP_000381.1:p.Leu124Ile
XM_006724615.2:c.307C>A	XP_006724678.1:p.Leu103Ile
XM_011530839.1:c.-75C>A	XP_011529141.1:n.-75C>A
NM_000390.3:c.370C>A	NP_000381.1:p.Leu124Ile
NM_001320959.1:c.-75C>A	NP_001307888.1:n.-75C>A
NM_001362517.1:c.-75C>A	NP_001349446.1:n.-75C>A
NM_001362518.1:c.-75C>A	NP_001349447.1:n.-75C>A
NM_001362519.1:c.-75C>A	NP_001349448.1:n.-75C>A
XM_017029242.2:c.370C>A	XP_016884731.1:p.Leu124Ile
XM_017029246.1:c.-75C>A	XP_016884735.1:n.-75C>A
XM_024452331.1:c.-75C>A	XP_024308099.1:n.-75C>A
NM_000390.4:c.370C>A MANE Select	NP_000381.1:p.Leu124Ile
NM_001362518.2:c.-75C>A	NP_001349447.1:n.-75C>A