Canonical Allele Identifier: CA413787179

Gene: CHM

Linked Data

• MyVariant Identifiers: chrX:g.85218930T>G (hg19) ; chrX:g.85963925T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963925T>G , CM000685.2:g.85963925T>G	GRCh38
NC_000023.10:g.85218930T>G , CM000685.1:g.85218930T>G	GRCh37
NC_000023.9:g.85105586T>G	NCBI36
NG_009874.2:g.88638A>C , LRG_699:g.88638A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.442A>C MANE Select	ENSP00000350386.2:p.Thr148Pro
ENST00000357749.6:c.442A>C	ENSP00000350386.2:p.Thr148Pro
ENST00000467744.2:n.126+63566A>C
NM_000390.2:c.442A>C , LRG_699t1:c.442A>C	NP_000381.1:p.Thr148Pro
XM_006724615.2:c.379A>C	XP_006724678.1:p.Thr127Pro
XM_011530839.1:c.-3A>C	XP_011529141.1:n.-3A>C
NM_000390.3:c.442A>C	NP_000381.1:p.Thr148Pro
NM_001320959.1:c.-3A>C	NP_001307888.1:n.-3A>C
NM_001362517.1:c.-3A>C	NP_001349446.1:n.-3A>C
NM_001362518.1:c.-3A>C	NP_001349447.1:n.-3A>C
NM_001362519.1:c.-3A>C	NP_001349448.1:n.-3A>C
XM_017029242.2:c.442A>C	XP_016884731.1:p.Thr148Pro
XM_017029246.1:c.-3A>C	XP_016884735.1:n.-3A>C
XM_024452331.1:c.-3A>C	XP_024308099.1:n.-3A>C
NM_000390.4:c.442A>C MANE Select	NP_000381.1:p.Thr148Pro
NM_001362518.2:c.-3A>C	NP_001349447.1:n.-3A>C