Canonical Allele Identifier: CA413787380

Gene: CHM

Linked Data

• dbSNP Id: rs1930446680
• MyVariant Identifiers: chrX:g.85219023C>T (hg19) ; chrX:g.85964018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85964018C>T , CM000685.2:g.85964018C>T	GRCh38
NC_000023.10:g.85219023C>T , CM000685.1:g.85219023C>T	GRCh37
NC_000023.9:g.85105679C>T	NCBI36
NG_009874.2:g.88545G>A , LRG_699:g.88545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.349G>A MANE Select	ENSP00000350386.2:p.Ala117Thr
ENST00000357749.6:c.349G>A	ENSP00000350386.2:p.Ala117Thr
ENST00000467744.2:n.126+63473G>A
NM_000390.2:c.349G>A , LRG_699t1:c.349G>A	NP_000381.1:p.Ala117Thr
XM_006724615.2:c.286G>A	XP_006724678.1:p.Ala96Thr
XM_011530839.1:c.-96G>A	XP_011529141.1:n.-96G>A
NM_000390.3:c.349G>A	NP_000381.1:p.Ala117Thr
NM_001320959.1:c.-96G>A	NP_001307888.1:n.-96G>A
NM_001362517.1:c.-96G>A	NP_001349446.1:n.-96G>A
NM_001362518.1:c.-96G>A	NP_001349447.1:n.-96G>A
NM_001362519.1:c.-96G>A	NP_001349448.1:n.-96G>A
XM_017029242.2:c.349G>A	XP_016884731.1:p.Ala117Thr
XM_017029246.1:c.-96G>A	XP_016884735.1:n.-96G>A
XM_024452331.1:c.-96G>A	XP_024308099.1:n.-96G>A
NM_000390.4:c.349G>A MANE Select	NP_000381.1:p.Ala117Thr
NM_001362518.2:c.-96G>A	NP_001349447.1:n.-96G>A