Canonical Allele Identifier: CA2579656033

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963648G>C , CM000685.2:g.85963648G>C	GRCh38
NC_000023.10:g.85218653G>C , CM000685.1:g.85218653G>C	GRCh37
NC_000023.9:g.85105309G>C	NCBI36
NG_009874.2:g.88915C>G , LRG_699:g.88915C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.702+17C>G MANE Select	ENSP00000350386.2:n.702+17C>G
ENST00000357749.6:c.702+17C>G	ENSP00000350386.2:n.702+17C>G
ENST00000467744.2:n.126+63843C>G
NM_000390.2:c.702+17C>G , LRG_699t1:c.702+17C>G	NP_000381.1:n.702+17C>G
XM_006724615.2:c.639+17C>G	XP_006724678.1:n.639+17C>G
XM_011530839.1:c.258+17C>G	XP_011529141.1:n.258+17C>G
NM_000390.3:c.702+17C>G	NP_000381.1:n.702+17C>G
NM_001320959.1:c.258+17C>G	NP_001307888.1:n.258+17C>G
NM_001362517.1:c.258+17C>G	NP_001349446.1:n.258+17C>G
NM_001362518.1:c.258+17C>G	NP_001349447.1:n.258+17C>G
NM_001362519.1:c.258+17C>G	NP_001349448.1:n.258+17C>G
XM_017029242.2:c.702+17C>G	XP_016884731.1:n.702+17C>G
XM_017029246.1:c.258+17C>G	XP_016884735.1:n.258+17C>G
XM_024452331.1:c.258+17C>G	XP_024308099.1:n.258+17C>G
NM_000390.4:c.702+17C>G MANE Select	NP_000381.1:n.702+17C>G
NM_001362518.2:c.258+17C>G	NP_001349447.1:n.258+17C>G