Canonical Allele Identifier: CA2694201883

Gene: CHM

Linked Data

• gnomAD v4: X-85878908-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878908G>T , CM000685.2:g.85878908G>T	GRCh38
NC_000023.10:g.85133913G>T , CM000685.1:g.85133913G>T	GRCh37
NC_000023.9:g.85020569G>T	NCBI36
NG_009874.2:g.173655C>A , LRG_699:g.173655C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1609+57C>A MANE Select	ENSP00000350386.2:n.1609+57C>A
ENST00000357749.6:c.1609+57C>A	ENSP00000350386.2:n.1609+57C>A
ENST00000467744.2:n.127-15814C>A
NM_000390.2:c.1609+57C>A , LRG_699t1:c.1609+57C>A	NP_000381.1:n.1609+57C>A
XM_006724615.2:c.1546+57C>A	XP_006724678.1:n.1546+57C>A
XM_011530839.1:c.1165+57C>A	XP_011529141.1:n.1165+57C>A
NM_000390.3:c.1609+57C>A	NP_000381.1:n.1609+57C>A
NM_001320959.1:c.1165+57C>A	NP_001307888.1:n.1165+57C>A
NM_001362517.1:c.1165+57C>A	NP_001349446.1:n.1165+57C>A
NM_001362518.1:c.1165+57C>A	NP_001349447.1:n.1165+57C>A
NM_001362519.1:c.1165+57C>A	NP_001349448.1:n.1165+57C>A
XM_017029242.2:c.1609+57C>A	XP_016884731.1:n.1609+57C>A
XM_017029246.1:c.1165+57C>A	XP_016884735.1:n.1165+57C>A
XM_024452331.1:c.1165+57C>A	XP_024308099.1:n.1165+57C>A
NM_000390.4:c.1609+57C>A MANE Select	NP_000381.1:n.1609+57C>A
NM_001362518.2:c.1165+57C>A	NP_001349447.1:n.1165+57C>A