Canonical Allele Identifier: CA10465344

Gene: CHM

Linked Data

• dbSNP Id: rs772411023
• ExAC: X:85133931 A / G
• gnomAD v2: X-85133931-A-G
• gnomAD v3: X-85878926-A-G
• gnomAD v4: X-85878926-A-G
• MyVariant Identifiers: chrX:g.85133931A>G (hg19) ; chrX:g.85878926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878926A>G , CM000685.2:g.85878926A>G	GRCh38
NC_000023.10:g.85133931A>G , CM000685.1:g.85133931A>G	GRCh37
NC_000023.9:g.85020587A>G	NCBI36
NG_009874.2:g.173637T>C , LRG_699:g.173637T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1609+39T>C MANE Select	ENSP00000350386.2:n.1609+39T>C
ENST00000357749.6:c.1609+39T>C	ENSP00000350386.2:n.1609+39T>C
ENST00000467744.2:n.127-15832T>C
NM_000390.2:c.1609+39T>C , LRG_699t1:c.1609+39T>C	NP_000381.1:n.1609+39T>C
XM_006724615.2:c.1546+39T>C	XP_006724678.1:n.1546+39T>C
XM_011530839.1:c.1165+39T>C	XP_011529141.1:n.1165+39T>C
NM_000390.3:c.1609+39T>C	NP_000381.1:n.1609+39T>C
NM_001320959.1:c.1165+39T>C	NP_001307888.1:n.1165+39T>C
NM_001362517.1:c.1165+39T>C	NP_001349446.1:n.1165+39T>C
NM_001362518.1:c.1165+39T>C	NP_001349447.1:n.1165+39T>C
NM_001362519.1:c.1165+39T>C	NP_001349448.1:n.1165+39T>C
XM_017029242.2:c.1609+39T>C	XP_016884731.1:n.1609+39T>C
XM_017029246.1:c.1165+39T>C	XP_016884735.1:n.1165+39T>C
XM_024452331.1:c.1165+39T>C	XP_024308099.1:n.1165+39T>C
NM_000390.4:c.1609+39T>C MANE Select	NP_000381.1:n.1609+39T>C
NM_001362518.2:c.1165+39T>C	NP_001349447.1:n.1165+39T>C