Canonical Allele Identifier: CA2822216296

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879119C>G , CM000685.2:g.85879119C>G	GRCh38
NC_000023.10:g.85134124C>G , CM000685.1:g.85134124C>G	GRCh37
NC_000023.9:g.85020780C>G	NCBI36
NG_009874.2:g.173444G>C , LRG_699:g.173444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1511-56G>C MANE Select	ENSP00000350386.2:n.1511-56G>C
ENST00000357749.6:c.1511-56G>C	ENSP00000350386.2:n.1511-56G>C
ENST00000467744.2:n.127-16025G>C
NM_000390.2:c.1511-56G>C , LRG_699t1:c.1511-56G>C	NP_000381.1:n.1511-56G>C
XM_006724615.2:c.1448-56G>C	XP_006724678.1:n.1448-56G>C
XM_011530839.1:c.1067-56G>C	XP_011529141.1:n.1067-56G>C
NM_000390.3:c.1511-56G>C	NP_000381.1:n.1511-56G>C
NM_001320959.1:c.1067-56G>C	NP_001307888.1:n.1067-56G>C
NM_001362517.1:c.1067-56G>C	NP_001349446.1:n.1067-56G>C
NM_001362518.1:c.1067-56G>C	NP_001349447.1:n.1067-56G>C
NM_001362519.1:c.1067-56G>C	NP_001349448.1:n.1067-56G>C
XM_017029242.2:c.1511-56G>C	XP_016884731.1:n.1511-56G>C
XM_017029246.1:c.1067-56G>C	XP_016884735.1:n.1067-56G>C
XM_024452331.1:c.1067-56G>C	XP_024308099.1:n.1067-56G>C
NM_000390.4:c.1511-56G>C MANE Select	NP_000381.1:n.1511-56G>C
NM_001362518.2:c.1067-56G>C	NP_001349447.1:n.1067-56G>C