Canonical Allele Identifier: CA517491314

Gene: CHM

Linked Data

• MyVariant Identifiers: chrX:g.85134031T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879026T>G , CM000685.2:g.85879026T>G	GRCh38
NC_000023.10:g.85134031T>G , CM000685.1:g.85134031T>G	GRCh37
NC_000023.9:g.85020687T>G	NCBI36
NG_009874.2:g.173537A>C , LRG_699:g.173537A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1548A>C MANE Select	ENSP00000350386.2:p.Ala516=
ENST00000357749.6:c.1548A>C	ENSP00000350386.2:p.Ala516=
ENST00000467744.2:n.127-15932A>C
NM_000390.2:c.1548A>C , LRG_699t1:c.1548A>C	NP_000381.1:p.Ala516=
XM_006724615.2:c.1485A>C	XP_006724678.1:p.Ala495=
XM_011530839.1:c.1104A>C	XP_011529141.1:p.Ala368=
NM_000390.3:c.1548A>C	NP_000381.1:p.Ala516=
NM_001320959.1:c.1104A>C	NP_001307888.1:p.Ala368=
NM_001362517.1:c.1104A>C	NP_001349446.1:p.Ala368=
NM_001362518.1:c.1104A>C	NP_001349447.1:p.Ala368=
NM_001362519.1:c.1104A>C	NP_001349448.1:p.Ala368=
XM_017029242.2:c.1548A>C	XP_016884731.1:p.Ala516=
XM_017029246.1:c.1104A>C	XP_016884735.1:p.Ala368=
XM_024452331.1:c.1104A>C	XP_024308099.1:p.Ala368=
NM_000390.4:c.1548A>C MANE Select	NP_000381.1:p.Ala516=
NM_001362518.2:c.1104A>C	NP_001349447.1:p.Ala368=