Canonical Allele Identifier: CA2694206288

Gene: CHM

Linked Data

• gnomAD v4: X-86047402-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86047402C>A , CM000685.2:g.86047402C>A	GRCh38
NC_000023.10:g.85302406C>A , CM000685.1:g.85302406C>A	GRCh37
NC_000023.9:g.85189062C>A	NCBI36
NG_009874.2:g.5161G>T , LRG_699:g.5161G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.49+82G>T MANE Select	ENSP00000350386.2:n.49+82G>T
ENST00000357749.6:c.49+82G>T	ENSP00000350386.2:n.49+82G>T
ENST00000483950.1:n.78+82G>T
ENST00000615443.1:c.49+82G>T	ENSP00000484306.1:n.49+82G>T
NM_000390.2:c.49+82G>T , LRG_699t1:c.49+82G>T	NP_000381.1:n.49+82G>T
NM_001145414.2:c.49+82G>T , LRG_699t2:c.49+82G>T	NP_001138886.1:n.49+82G>T
NM_000390.3:c.49+82G>T	NP_000381.1:n.49+82G>T
NM_001145414.3:c.49+82G>T	NP_001138886.1:n.49+82G>T
XM_017029242.2:c.49+82G>T	XP_016884731.1:n.49+82G>T
XM_017029246.1:c.-392+82G>T	XP_016884735.1:n.-392+82G>T
NM_000390.4:c.49+82G>T MANE Select	NP_000381.1:n.49+82G>T
NM_001145414.4:c.49+82G>T	NP_001138886.1:n.49+82G>T