Canonical Allele Identifier: CA2694206277

Gene: CHM

Linked Data

• gnomAD v4: X-86047384-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86047384T>C , CM000685.2:g.86047384T>C	GRCh38
NC_000023.10:g.85302388T>C , CM000685.1:g.85302388T>C	GRCh37
NC_000023.9:g.85189044T>C	NCBI36
NG_009874.2:g.5179A>G , LRG_699:g.5179A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.49+100A>G MANE Select	ENSP00000350386.2:n.49+100A>G
ENST00000357749.6:c.49+100A>G	ENSP00000350386.2:n.49+100A>G
ENST00000483950.1:n.78+100A>G
ENST00000615443.1:c.49+100A>G	ENSP00000484306.1:n.49+100A>G
NM_000390.2:c.49+100A>G , LRG_699t1:c.49+100A>G	NP_000381.1:n.49+100A>G
NM_001145414.2:c.49+100A>G , LRG_699t2:c.49+100A>G	NP_001138886.1:n.49+100A>G
NM_000390.3:c.49+100A>G	NP_000381.1:n.49+100A>G
NM_001145414.3:c.49+100A>G	NP_001138886.1:n.49+100A>G
XM_017029242.2:c.49+100A>G	XP_016884731.1:n.49+100A>G
XM_017029246.1:c.-392+100A>G	XP_016884735.1:n.-392+100A>G
NM_000390.4:c.49+100A>G MANE Select	NP_000381.1:n.49+100A>G
NM_001145414.4:c.49+100A>G	NP_001138886.1:n.49+100A>G