Canonical Allele Identifier: CA2694206285

Gene: CHM

Linked Data

• gnomAD v4: X-86047396-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86047396G>T , CM000685.2:g.86047396G>T	GRCh38
NC_000023.10:g.85302400G>T , CM000685.1:g.85302400G>T	GRCh37
NC_000023.9:g.85189056G>T	NCBI36
NG_009874.2:g.5167C>A , LRG_699:g.5167C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.49+88C>A MANE Select	ENSP00000350386.2:n.49+88C>A
ENST00000357749.6:c.49+88C>A	ENSP00000350386.2:n.49+88C>A
ENST00000483950.1:n.78+88C>A
ENST00000615443.1:c.49+88C>A	ENSP00000484306.1:n.49+88C>A
NM_000390.2:c.49+88C>A , LRG_699t1:c.49+88C>A	NP_000381.1:n.49+88C>A
NM_001145414.2:c.49+88C>A , LRG_699t2:c.49+88C>A	NP_001138886.1:n.49+88C>A
NM_000390.3:c.49+88C>A	NP_000381.1:n.49+88C>A
NM_001145414.3:c.49+88C>A	NP_001138886.1:n.49+88C>A
XM_017029242.2:c.49+88C>A	XP_016884731.1:n.49+88C>A
XM_017029246.1:c.-392+88C>A	XP_016884735.1:n.-392+88C>A
NM_000390.4:c.49+88C>A MANE Select	NP_000381.1:n.49+88C>A
NM_001145414.4:c.49+88C>A	NP_001138886.1:n.49+88C>A