Canonical Allele Identifier: CA413788726

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86047530C>T , CM000685.2:g.86047530C>T	GRCh38
NC_000023.10:g.85302534C>T , CM000685.1:g.85302534C>T	GRCh37
NC_000023.9:g.85189190C>T	NCBI36
NG_009874.2:g.5033G>A , LRG_699:g.5033G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.3G>A MANE Select	NP_000381.1:p.Met1Ile
ENST00000357749.7:c.3G>A MANE Select	ENSP00000350386.2:p.Met1Ile
NM_000390.2:c.3G>A , LRG_699t1:c.3G>A	NP_000381.1:p.Met1Ile
NM_000390.3:c.3G>A	NP_000381.1:p.Met1Ile
NM_001145414.2:c.3G>A , LRG_699t2:c.3G>A	NP_001138886.1:p.Met1Ile
NM_001145414.3:c.3G>A	NP_001138886.1:p.Met1Ile
NM_001145414.4:c.3G>A	NP_001138886.1:p.Met1Ile
ENST00000357749.6:c.3G>A	ENSP00000350386.2:p.Met1Ile
ENST00000483950.1:n.32G>A
ENST00000615443.1:c.3G>A	ENSP00000484306.1:p.Met1Ile
XM_017029242.2:c.3G>A	XP_016884731.1:p.Met1Ile
XM_017029246.1:c.-438G>A	XP_016884735.1:n.-438G>A