Canonical Allele Identifier: CA413787685

Gene: CHM

Linked Data

• dbSNP Id: rs1924596975
• MyVariant Identifiers: chrX:g.85134063C>A (hg19) ; chrX:g.85879058C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879058C>A , CM000685.2:g.85879058C>A	GRCh38
NC_000023.10:g.85134063C>A , CM000685.1:g.85134063C>A	GRCh37
NC_000023.9:g.85020719C>A	NCBI36
NG_009874.2:g.173505G>T , LRG_699:g.173505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1516G>T MANE Select	ENSP00000350386.2:p.Val506Phe
ENST00000357749.6:c.1516G>T	ENSP00000350386.2:p.Val506Phe
ENST00000467744.2:n.127-15964G>T
NM_000390.2:c.1516G>T , LRG_699t1:c.1516G>T	NP_000381.1:p.Val506Phe
XM_006724615.2:c.1453G>T	XP_006724678.1:p.Val485Phe
XM_011530839.1:c.1072G>T	XP_011529141.1:p.Val358Phe
NM_000390.3:c.1516G>T	NP_000381.1:p.Val506Phe
NM_001320959.1:c.1072G>T	NP_001307888.1:p.Val358Phe
NM_001362517.1:c.1072G>T	NP_001349446.1:p.Val358Phe
NM_001362518.1:c.1072G>T	NP_001349447.1:p.Val358Phe
NM_001362519.1:c.1072G>T	NP_001349448.1:p.Val358Phe
XM_017029242.2:c.1516G>T	XP_016884731.1:p.Val506Phe
XM_017029246.1:c.1072G>T	XP_016884735.1:p.Val358Phe
XM_024452331.1:c.1072G>T	XP_024308099.1:p.Val358Phe
NM_000390.4:c.1516G>T MANE Select	NP_000381.1:p.Val506Phe
NM_001362518.2:c.1072G>T	NP_001349447.1:p.Val358Phe