Canonical Allele Identifier: CA2442450987

Gene: CHM

Linked Data

• dbSNP Id: rs565063907
• gnomAD v3: X-85878899-T-G
• gnomAD v4: X-85878899-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878899T>G , CM000685.2:g.85878899T>G	GRCh38
NC_000023.10:g.85133904T>G , CM000685.1:g.85133904T>G	GRCh37
NC_000023.9:g.85020560T>G	NCBI36
NG_009874.2:g.173664A>C , LRG_699:g.173664A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1609+66A>C MANE Select	ENSP00000350386.2:n.1609+66A>C
ENST00000357749.6:c.1609+66A>C	ENSP00000350386.2:n.1609+66A>C
ENST00000467744.2:n.127-15805A>C
NM_000390.2:c.1609+66A>C , LRG_699t1:c.1609+66A>C	NP_000381.1:n.1609+66A>C
XM_006724615.2:c.1546+66A>C	XP_006724678.1:n.1546+66A>C
XM_011530839.1:c.1165+66A>C	XP_011529141.1:n.1165+66A>C
NM_000390.3:c.1609+66A>C	NP_000381.1:n.1609+66A>C
NM_001320959.1:c.1165+66A>C	NP_001307888.1:n.1165+66A>C
NM_001362517.1:c.1165+66A>C	NP_001349446.1:n.1165+66A>C
NM_001362518.1:c.1165+66A>C	NP_001349447.1:n.1165+66A>C
NM_001362519.1:c.1165+66A>C	NP_001349448.1:n.1165+66A>C
XM_017029242.2:c.1609+66A>C	XP_016884731.1:n.1609+66A>C
XM_017029246.1:c.1165+66A>C	XP_016884735.1:n.1165+66A>C
XM_024452331.1:c.1165+66A>C	XP_024308099.1:n.1165+66A>C
NM_000390.4:c.1609+66A>C MANE Select	NP_000381.1:n.1609+66A>C
NM_001362518.2:c.1165+66A>C	NP_001349447.1:n.1165+66A>C