Canonical Allele Identifier: CA332655375

Gene: CHM

Linked Data

• ClinVar Variation Id: 1480853
• ClinVar RCV Id: RCV001988165
• dbSNP Id: rs867484071
• gnomAD v3: X-85963969-G-A
• gnomAD v4: X-85963969-G-A
• MyVariant Identifiers: chrX:g.85218974G>A (hg19) ; chrX:g.85963969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963969G>A , CM000685.2:g.85963969G>A	GRCh38
NC_000023.10:g.85218974G>A , CM000685.1:g.85218974G>A	GRCh37
NC_000023.9:g.85105630G>A	NCBI36
NG_009874.2:g.88594C>T , LRG_699:g.88594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.398C>T MANE Select	ENSP00000350386.2:p.Ala133Val
ENST00000357749.6:c.398C>T	ENSP00000350386.2:p.Ala133Val
ENST00000467744.2:n.126+63522C>T
NM_000390.2:c.398C>T , LRG_699t1:c.398C>T	NP_000381.1:p.Ala133Val
XM_006724615.2:c.335C>T	XP_006724678.1:p.Ala112Val
XM_011530839.1:c.-47C>T	XP_011529141.1:n.-47C>T
NM_000390.3:c.398C>T	NP_000381.1:p.Ala133Val
NM_001320959.1:c.-47C>T	NP_001307888.1:n.-47C>T
NM_001362517.1:c.-47C>T	NP_001349446.1:n.-47C>T
NM_001362518.1:c.-47C>T	NP_001349447.1:n.-47C>T
NM_001362519.1:c.-47C>T	NP_001349448.1:n.-47C>T
XM_017029242.2:c.398C>T	XP_016884731.1:p.Ala133Val
XM_017029246.1:c.-47C>T	XP_016884735.1:n.-47C>T
XM_024452331.1:c.-47C>T	XP_024308099.1:n.-47C>T
NM_000390.4:c.398C>T MANE Select	NP_000381.1:p.Ala133Val
NM_001362518.2:c.-47C>T	NP_001349447.1:n.-47C>T