Canonical Allele Identifier: CA517724193

Gene: CHM

Linked Data

• dbSNP Id: rs748131333
• gnomAD v3: X-85963923-A-G
• gnomAD v4: X-85963923-A-G
• MyVariant Identifiers: chrX:g.85218928A>G (hg19) ; chrX:g.85963923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963923A>G , CM000685.2:g.85963923A>G	GRCh38
NC_000023.10:g.85218928A>G , CM000685.1:g.85218928A>G	GRCh37
NC_000023.9:g.85105584A>G	NCBI36
NG_009874.2:g.88640T>C , LRG_699:g.88640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.444T>C MANE Select	ENSP00000350386.2:p.Thr148=
ENST00000357749.6:c.444T>C	ENSP00000350386.2:p.Thr148=
ENST00000467744.2:n.126+63568T>C
NM_000390.2:c.444T>C , LRG_699t1:c.444T>C	NP_000381.1:p.Thr148=
XM_006724615.2:c.381T>C	XP_006724678.1:p.Thr127=
XM_011530839.1:c.-1T>C	XP_011529141.1:n.-1T>C
NM_000390.3:c.444T>C	NP_000381.1:p.Thr148=
NM_001320959.1:c.-1T>C	NP_001307888.1:n.-1T>C
NM_001362517.1:c.-1T>C	NP_001349446.1:n.-1T>C
NM_001362518.1:c.-1T>C	NP_001349447.1:n.-1T>C
NM_001362519.1:c.-1T>C	NP_001349448.1:n.-1T>C
XM_017029242.2:c.444T>C	XP_016884731.1:p.Thr148=
XM_017029246.1:c.-1T>C	XP_016884735.1:n.-1T>C
XM_024452331.1:c.-1T>C	XP_024308099.1:n.-1T>C
NM_000390.4:c.444T>C MANE Select	NP_000381.1:p.Thr148=
NM_001362518.2:c.-1T>C	NP_001349447.1:n.-1T>C