Canonical Allele Identifier: CA1134993914
Gene: CHM HGNC NCBI

Linked Data

dbSNP Id: rs1930402909

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85963501dup , CM000685.2:g.85963501dup GRCh38
NC_000023.10:g.85218506dup , CM000685.1:g.85218506dup GRCh37
NC_000023.9:g.85105162dup NCBI36
NG_009874.2:g.89064dup , LRG_699:g.89064dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.702+166dup MANE Select ENSP00000350386.2:n.702+166dup
ENST00000357749.6:c.702+166dup ENSP00000350386.2:n.702+166dup
ENST00000467744.2:n.126+63992dup
NM_000390.2:c.702+166dup , LRG_699t1:c.702+166dup NP_000381.1:n.702+166dup
XM_006724615.2:c.639+166dup XP_006724678.1:n.639+166dup
XM_011530839.1:c.258+166dup XP_011529141.1:n.258+166dup
NM_000390.3:c.702+166dup NP_000381.1:n.702+166dup
NM_001320959.1:c.258+166dup NP_001307888.1:n.258+166dup
NM_001362517.1:c.258+166dup NP_001349446.1:n.258+166dup
NM_001362518.1:c.258+166dup NP_001349447.1:n.258+166dup
NM_001362519.1:c.258+166dup NP_001349448.1:n.258+166dup
XM_017029242.2:c.702+166dup XP_016884731.1:n.702+166dup
XM_017029246.1:c.258+166dup XP_016884735.1:n.258+166dup
XM_024452331.1:c.258+166dup XP_024308099.1:n.258+166dup
NM_000390.4:c.702+166dup MANE Select NP_000381.1:n.702+166dup
NM_001362518.2:c.258+166dup NP_001349447.1:n.258+166dup