Canonical Allele Identifier: CA413786244

Gene: CHM

Linked Data

• ClinVar Variation Id: 2495012
• ClinVar RCV Id: RCV003213249
• MyVariant Identifiers: chrX:g.85218675A>G (hg19) ; chrX:g.85963670A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963670A>G , CM000685.2:g.85963670A>G	GRCh38
NC_000023.10:g.85218675A>G , CM000685.1:g.85218675A>G	GRCh37
NC_000023.9:g.85105331A>G	NCBI36
NG_009874.2:g.88893T>C , LRG_699:g.88893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.697T>C MANE Select	ENSP00000350386.2:p.Ser233Pro
ENST00000357749.6:c.697T>C	ENSP00000350386.2:p.Ser233Pro
ENST00000467744.2:n.126+63821T>C
NM_000390.2:c.697T>C , LRG_699t1:c.697T>C	NP_000381.1:p.Ser233Pro
XM_006724615.2:c.634T>C	XP_006724678.1:p.Ser212Pro
XM_011530839.1:c.253T>C	XP_011529141.1:p.Ser85Pro
NM_000390.3:c.697T>C	NP_000381.1:p.Ser233Pro
NM_001320959.1:c.253T>C	NP_001307888.1:p.Ser85Pro
NM_001362517.1:c.253T>C	NP_001349446.1:p.Ser85Pro
NM_001362518.1:c.253T>C	NP_001349447.1:p.Ser85Pro
NM_001362519.1:c.253T>C	NP_001349448.1:p.Ser85Pro
XM_017029242.2:c.697T>C	XP_016884731.1:p.Ser233Pro
XM_017029246.1:c.253T>C	XP_016884735.1:p.Ser85Pro
XM_024452331.1:c.253T>C	XP_024308099.1:p.Ser85Pro
NM_000390.4:c.697T>C MANE Select	NP_000381.1:p.Ser233Pro
NM_001362518.2:c.253T>C	NP_001349447.1:p.Ser85Pro