Canonical Allele Identifier: CA1134992541

Gene: CHM

Linked Data

• dbSNP Id: rs1930137278
• gnomAD v3: X-85958800-C-A
• gnomAD v4: X-85958800-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958800C>A , CM000685.2:g.85958800C>A	GRCh38
NC_000023.10:g.85213805C>A , CM000685.1:g.85213805C>A	GRCh37
NC_000023.9:g.85100461C>A	NCBI36
NG_009874.2:g.93763G>T , LRG_699:g.93763G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.819+61G>T MANE Select	ENSP00000350386.2:n.819+61G>T
ENST00000357749.6:c.819+61G>T	ENSP00000350386.2:n.819+61G>T
ENST00000467744.2:n.126+68691G>T
NM_000390.2:c.819+61G>T , LRG_699t1:c.819+61G>T	NP_000381.1:n.819+61G>T
XM_006724615.2:c.756+61G>T	XP_006724678.1:n.756+61G>T
XM_011530839.1:c.375+61G>T	XP_011529141.1:n.375+61G>T
NM_000390.3:c.819+61G>T	NP_000381.1:n.819+61G>T
NM_001320959.1:c.375+61G>T	NP_001307888.1:n.375+61G>T
NM_001362517.1:c.375+61G>T	NP_001349446.1:n.375+61G>T
NM_001362518.1:c.375+61G>T	NP_001349447.1:n.375+61G>T
NM_001362519.1:c.375+61G>T	NP_001349448.1:n.375+61G>T
XM_017029242.2:c.819+61G>T	XP_016884731.1:n.819+61G>T
XM_017029246.1:c.375+61G>T	XP_016884735.1:n.375+61G>T
XM_024452331.1:c.375+61G>T	XP_024308099.1:n.375+61G>T
NM_000390.4:c.819+61G>T MANE Select	NP_000381.1:n.819+61G>T
NM_001362518.2:c.375+61G>T	NP_001349447.1:n.375+61G>T