Canonical Allele Identifier: CA413786435

Gene: CHM

Linked Data

• dbSNP Id: rs371773263
• gnomAD v2: X-85218725-G-A
• gnomAD v4: X-85963720-G-A
• MyVariant Identifiers: chrX:g.85218725G>A (hg19) ; chrX:g.85963720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963720G>A , CM000685.2:g.85963720G>A	GRCh38
NC_000023.10:g.85218725G>A , CM000685.1:g.85218725G>A	GRCh37
NC_000023.9:g.85105381G>A	NCBI36
NG_009874.2:g.88843C>T , LRG_699:g.88843C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.647C>T MANE Select	ENSP00000350386.2:p.Thr216Ile
ENST00000357749.6:c.647C>T	ENSP00000350386.2:p.Thr216Ile
ENST00000467744.2:n.126+63771C>T
NM_000390.2:c.647C>T , LRG_699t1:c.647C>T	NP_000381.1:p.Thr216Ile
XM_006724615.2:c.584C>T	XP_006724678.1:p.Thr195Ile
XM_011530839.1:c.203C>T	XP_011529141.1:p.Thr68Ile
NM_000390.3:c.647C>T	NP_000381.1:p.Thr216Ile
NM_001320959.1:c.203C>T	NP_001307888.1:p.Thr68Ile
NM_001362517.1:c.203C>T	NP_001349446.1:p.Thr68Ile
NM_001362518.1:c.203C>T	NP_001349447.1:p.Thr68Ile
NM_001362519.1:c.203C>T	NP_001349448.1:p.Thr68Ile
XM_017029242.2:c.647C>T	XP_016884731.1:p.Thr216Ile
XM_017029246.1:c.203C>T	XP_016884735.1:p.Thr68Ile
XM_024452331.1:c.203C>T	XP_024308099.1:p.Thr68Ile
NM_000390.4:c.647C>T MANE Select	NP_000381.1:p.Thr216Ile
NM_001362518.2:c.203C>T	NP_001349447.1:p.Thr68Ile