Canonical Allele Identifier: CA517723207

Gene: CHM

Linked Data

• gnomAD v4: X-85963727-T-G
• MyVariant Identifiers: chrX:g.85218732T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963727T>G , CM000685.2:g.85963727T>G	GRCh38
NC_000023.10:g.85218732T>G , CM000685.1:g.85218732T>G	GRCh37
NC_000023.9:g.85105388T>G	NCBI36
NG_009874.2:g.88836A>C , LRG_699:g.88836A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.640A>C MANE Select	ENSP00000350386.2:p.Arg214=
ENST00000357749.6:c.640A>C	ENSP00000350386.2:p.Arg214=
ENST00000467744.2:n.126+63764A>C
NM_000390.2:c.640A>C , LRG_699t1:c.640A>C	NP_000381.1:p.Arg214=
XM_006724615.2:c.577A>C	XP_006724678.1:p.Arg193=
XM_011530839.1:c.196A>C	XP_011529141.1:p.Arg66=
NM_000390.3:c.640A>C	NP_000381.1:p.Arg214=
NM_001320959.1:c.196A>C	NP_001307888.1:p.Arg66=
NM_001362517.1:c.196A>C	NP_001349446.1:p.Arg66=
NM_001362518.1:c.196A>C	NP_001349447.1:p.Arg66=
NM_001362519.1:c.196A>C	NP_001349448.1:p.Arg66=
XM_017029242.2:c.640A>C	XP_016884731.1:p.Arg214=
XM_017029246.1:c.196A>C	XP_016884735.1:p.Arg66=
XM_024452331.1:c.196A>C	XP_024308099.1:p.Arg66=
NM_000390.4:c.640A>C MANE Select	NP_000381.1:p.Arg214=
NM_001362518.2:c.196A>C	NP_001349447.1:p.Arg66=