Canonical Allele Identifier: CA413787658

Gene: CHM

Linked Data

• MyVariant Identifiers: chrX:g.85134050C>A (hg19) ; chrX:g.85879045C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879045C>A , CM000685.2:g.85879045C>A	GRCh38
NC_000023.10:g.85134050C>A , CM000685.1:g.85134050C>A	GRCh37
NC_000023.9:g.85020706C>A	NCBI36
NG_009874.2:g.173518G>T , LRG_699:g.173518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1529G>T MANE Select	ENSP00000350386.2:p.Cys510Phe
ENST00000357749.6:c.1529G>T	ENSP00000350386.2:p.Cys510Phe
ENST00000467744.2:n.127-15951G>T
NM_000390.2:c.1529G>T , LRG_699t1:c.1529G>T	NP_000381.1:p.Cys510Phe
XM_006724615.2:c.1466G>T	XP_006724678.1:p.Cys489Phe
XM_011530839.1:c.1085G>T	XP_011529141.1:p.Cys362Phe
NM_000390.3:c.1529G>T	NP_000381.1:p.Cys510Phe
NM_001320959.1:c.1085G>T	NP_001307888.1:p.Cys362Phe
NM_001362517.1:c.1085G>T	NP_001349446.1:p.Cys362Phe
NM_001362518.1:c.1085G>T	NP_001349447.1:p.Cys362Phe
NM_001362519.1:c.1085G>T	NP_001349448.1:p.Cys362Phe
XM_017029242.2:c.1529G>T	XP_016884731.1:p.Cys510Phe
XM_017029246.1:c.1085G>T	XP_016884735.1:p.Cys362Phe
XM_024452331.1:c.1085G>T	XP_024308099.1:p.Cys362Phe
NM_000390.4:c.1529G>T MANE Select	NP_000381.1:p.Cys510Phe
NM_001362518.2:c.1085G>T	NP_001349447.1:p.Cys362Phe