Canonical Allele Identifier: CA413785282
Gene: CHM HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.85211305G>C (hg19) chrX:g.85956300G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85956300G>C , CM000685.2:g.85956300G>C GRCh38
NC_000023.10:g.85211305G>C , CM000685.1:g.85211305G>C GRCh37
NC_000023.9:g.85097961G>C NCBI36
NG_009874.2:g.96263C>G , LRG_699:g.96263C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.1019C>G MANE Select ENSP00000350386.2:p.Ser340Ter
ENST00000357749.6:c.1019C>G ENSP00000350386.2:p.Ser340Ter
ENST00000467744.2:n.126+71191C>G
NM_000390.2:c.1019C>G , LRG_699t1:c.1019C>G NP_000381.1:p.Ser340Ter
XM_006724615.2:c.956C>G XP_006724678.1:p.Ser319Ter
XM_011530839.1:c.575C>G XP_011529141.1:p.Ser192Ter
NM_000390.3:c.1019C>G NP_000381.1:p.Ser340Ter
NM_001320959.1:c.575C>G NP_001307888.1:p.Ser192Ter
NM_001362517.1:c.575C>G NP_001349446.1:p.Ser192Ter
NM_001362518.1:c.575C>G NP_001349447.1:p.Ser192Ter
NM_001362519.1:c.575C>G NP_001349448.1:p.Ser192Ter
XM_017029242.2:c.1019C>G XP_016884731.1:p.Ser340Ter
XM_017029246.1:c.575C>G XP_016884735.1:p.Ser192Ter
XM_024452331.1:c.575C>G XP_024308099.1:p.Ser192Ter
NM_000390.4:c.1019C>G MANE Select NP_000381.1:p.Ser340Ter
NM_001362518.2:c.575C>G NP_001349447.1:p.Ser192Ter
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