Canonical Allele Identifier: CA10465552

Gene: CHM

Linked Data

• dbSNP Id: rs781053852
• ExAC: X:85218738 T / C
• gnomAD v2: X-85218738-T-C
• gnomAD v3: X-85963733-T-C
• gnomAD v4: X-85963733-T-C
• MyVariant Identifiers: chrX:g.85218738T>C (hg19) ; chrX:g.85963733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963733T>C , CM000685.2:g.85963733T>C	GRCh38
NC_000023.10:g.85218738T>C , CM000685.1:g.85218738T>C	GRCh37
NC_000023.9:g.85105394T>C	NCBI36
NG_009874.2:g.88830A>G , LRG_699:g.88830A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.634A>G MANE Select	ENSP00000350386.2:p.Lys212Glu
ENST00000357749.6:c.634A>G	ENSP00000350386.2:p.Lys212Glu
ENST00000467744.2:n.126+63758A>G
NM_000390.2:c.634A>G , LRG_699t1:c.634A>G	NP_000381.1:p.Lys212Glu
XM_006724615.2:c.571A>G	XP_006724678.1:p.Lys191Glu
XM_011530839.1:c.190A>G	XP_011529141.1:p.Lys64Glu
NM_000390.3:c.634A>G	NP_000381.1:p.Lys212Glu
NM_001320959.1:c.190A>G	NP_001307888.1:p.Lys64Glu
NM_001362517.1:c.190A>G	NP_001349446.1:p.Lys64Glu
NM_001362518.1:c.190A>G	NP_001349447.1:p.Lys64Glu
NM_001362519.1:c.190A>G	NP_001349448.1:p.Lys64Glu
XM_017029242.2:c.634A>G	XP_016884731.1:p.Lys212Glu
XM_017029246.1:c.190A>G	XP_016884735.1:p.Lys64Glu
XM_024452331.1:c.190A>G	XP_024308099.1:p.Lys64Glu
NM_000390.4:c.634A>G MANE Select	NP_000381.1:p.Lys212Glu
NM_001362518.2:c.190A>G	NP_001349447.1:p.Lys64Glu