Canonical Allele Identifier: CA10465356

Gene: CHM

Linked Data

• ClinVar Variation Id: 1152986
• ClinVar RCV Id: RCV001494522
• dbSNP Id: rs750216606
• ExAC: X:85134064 C / T
• gnomAD v2: X-85134064-C-T
• gnomAD v4: X-85879059-C-T
• MyVariant Identifiers: chrX:g.85134064C>T (hg19) ; chrX:g.85879059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879059C>T , CM000685.2:g.85879059C>T	GRCh38
NC_000023.10:g.85134064C>T , CM000685.1:g.85134064C>T	GRCh37
NC_000023.9:g.85020720C>T	NCBI36
NG_009874.2:g.173504G>A , LRG_699:g.173504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1515G>A MANE Select	ENSP00000350386.2:p.Leu505=
ENST00000357749.6:c.1515G>A	ENSP00000350386.2:p.Leu505=
ENST00000467744.2:n.127-15965G>A
NM_000390.2:c.1515G>A , LRG_699t1:c.1515G>A	NP_000381.1:p.Leu505=
XM_006724615.2:c.1452G>A	XP_006724678.1:p.Leu484=
XM_011530839.1:c.1071G>A	XP_011529141.1:p.Leu357=
NM_000390.3:c.1515G>A	NP_000381.1:p.Leu505=
NM_001320959.1:c.1071G>A	NP_001307888.1:p.Leu357=
NM_001362517.1:c.1071G>A	NP_001349446.1:p.Leu357=
NM_001362518.1:c.1071G>A	NP_001349447.1:p.Leu357=
NM_001362519.1:c.1071G>A	NP_001349448.1:p.Leu357=
XM_017029242.2:c.1515G>A	XP_016884731.1:p.Leu505=
XM_017029246.1:c.1071G>A	XP_016884735.1:p.Leu357=
XM_024452331.1:c.1071G>A	XP_024308099.1:p.Leu357=
NM_000390.4:c.1515G>A MANE Select	NP_000381.1:p.Leu505=
NM_001362518.2:c.1071G>A	NP_001349447.1:p.Leu357=