Canonical Allele Identifier: CA10465551

Gene: CHM

Linked Data

• dbSNP Id: rs770599995
• ExAC: X:85218736 T / C
• gnomAD v2: X-85218736-T-C
• gnomAD v4: X-85963731-T-C
• MyVariant Identifiers: chrX:g.85218736T>C (hg19) ; chrX:g.85963731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963731T>C , CM000685.2:g.85963731T>C	GRCh38
NC_000023.10:g.85218736T>C , CM000685.1:g.85218736T>C	GRCh37
NC_000023.9:g.85105392T>C	NCBI36
NG_009874.2:g.88832A>G , LRG_699:g.88832A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.636A>G MANE Select	ENSP00000350386.2:p.Lys212=
ENST00000357749.6:c.636A>G	ENSP00000350386.2:p.Lys212=
ENST00000467744.2:n.126+63760A>G
NM_000390.2:c.636A>G , LRG_699t1:c.636A>G	NP_000381.1:p.Lys212=
XM_006724615.2:c.573A>G	XP_006724678.1:p.Lys191=
XM_011530839.1:c.192A>G	XP_011529141.1:p.Lys64=
NM_000390.3:c.636A>G	NP_000381.1:p.Lys212=
NM_001320959.1:c.192A>G	NP_001307888.1:p.Lys64=
NM_001362517.1:c.192A>G	NP_001349446.1:p.Lys64=
NM_001362518.1:c.192A>G	NP_001349447.1:p.Lys64=
NM_001362519.1:c.192A>G	NP_001349448.1:p.Lys64=
XM_017029242.2:c.636A>G	XP_016884731.1:p.Lys212=
XM_017029246.1:c.192A>G	XP_016884735.1:p.Lys64=
XM_024452331.1:c.192A>G	XP_024308099.1:p.Lys64=
NM_000390.4:c.636A>G MANE Select	NP_000381.1:p.Lys212=
NM_001362518.2:c.192A>G	NP_001349447.1:p.Lys64=