Canonical Allele Identifier: CA16608997

Gene: CHM

Linked Data

• ClinVar Variation Id: 379530
• ClinVar RCV Id: RCV000431379
• dbSNP Id: rs1057520629
• MyVariant Identifiers: chrX:g.85156104G>C (hg19) ; chrX:g.85901099G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85901099G>C , CM000685.2:g.85901099G>C	GRCh38
NC_000023.10:g.85156104G>C , CM000685.1:g.85156104G>C	GRCh37
NC_000023.9:g.85042760G>C	NCBI36
NG_009874.2:g.151464C>G , LRG_699:g.151464C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1334C>G MANE Select	ENSP00000350386.2:p.Ser445Ter
ENST00000357749.6:c.1334C>G	ENSP00000350386.2:p.Ser445Ter
ENST00000467744.2:n.127-38005C>G
NM_000390.2:c.1334C>G , LRG_699t1:c.1334C>G	NP_000381.1:p.Ser445Ter
XM_006724615.2:c.1271C>G	XP_006724678.1:p.Ser424Ter
XM_011530839.1:c.890C>G	XP_011529141.1:p.Ser297Ter
NM_000390.3:c.1334C>G	NP_000381.1:p.Ser445Ter
NM_001320959.1:c.890C>G	NP_001307888.1:p.Ser297Ter
NM_001362517.1:c.890C>G	NP_001349446.1:p.Ser297Ter
NM_001362518.1:c.890C>G	NP_001349447.1:p.Ser297Ter
NM_001362519.1:c.890C>G	NP_001349448.1:p.Ser297Ter
XM_017029242.2:c.1334C>G	XP_016884731.1:p.Ser445Ter
XM_017029246.1:c.890C>G	XP_016884735.1:p.Ser297Ter
XM_024452331.1:c.890C>G	XP_024308099.1:p.Ser297Ter
NM_000390.4:c.1334C>G MANE Select	NP_000381.1:p.Ser445Ter
NM_001362518.2:c.890C>G	NP_001349447.1:p.Ser297Ter