Canonical Allele Identifier: CA413786546

Gene: CHM

Linked Data

• ClinVar Variation Id: 3028620
• ClinVar RCV Id: RCV003890485
• MyVariant Identifiers: chrX:g.85218755G>C (hg19) ; chrX:g.85963750G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963750G>C , CM000685.2:g.85963750G>C	GRCh38
NC_000023.10:g.85218755G>C , CM000685.1:g.85218755G>C	GRCh37
NC_000023.9:g.85105411G>C	NCBI36
NG_009874.2:g.88813C>G , LRG_699:g.88813C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.617C>G MANE Select	ENSP00000350386.2:p.Thr206Ser
ENST00000357749.6:c.617C>G	ENSP00000350386.2:p.Thr206Ser
ENST00000467744.2:n.126+63741C>G
NM_000390.2:c.617C>G , LRG_699t1:c.617C>G	NP_000381.1:p.Thr206Ser
XM_006724615.2:c.554C>G	XP_006724678.1:p.Thr185Ser
XM_011530839.1:c.173C>G	XP_011529141.1:p.Thr58Ser
NM_000390.3:c.617C>G	NP_000381.1:p.Thr206Ser
NM_001320959.1:c.173C>G	NP_001307888.1:p.Thr58Ser
NM_001362517.1:c.173C>G	NP_001349446.1:p.Thr58Ser
NM_001362518.1:c.173C>G	NP_001349447.1:p.Thr58Ser
NM_001362519.1:c.173C>G	NP_001349448.1:p.Thr58Ser
XM_017029242.2:c.617C>G	XP_016884731.1:p.Thr206Ser
XM_017029246.1:c.173C>G	XP_016884735.1:p.Thr58Ser
XM_024452331.1:c.173C>G	XP_024308099.1:p.Thr58Ser
NM_000390.4:c.617C>G MANE Select	NP_000381.1:p.Thr206Ser
NM_001362518.2:c.173C>G	NP_001349447.1:p.Thr58Ser