Canonical Allele Identifier: CA6994220
Gene: CNMD HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.52739659G>A
GRCh37 chr13:g.53313794G>A
Revel Score:
ENST00000448904 0.026
ENST00000377962 (MANE Select) 0.026
gnomAD v2:
13:53313794 G / A
gnomAD v3:
13:52739659 G / A
gnomAD v4:
chr13-52739659-G-A
Joint Max Group AF 0.00002255 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV004439893
ClinVar Variation:
3146507
dbSNP:
752832077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52739659G>A , CM000675.2:g.52739659G>A GRCh38
NC_000013.10:g.53313794G>A , CM000675.1:g.53313794G>A GRCh37
NC_000013.9:g.52211795G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377962.8:c.43C>T MANE Select ENSP00000367198.3:p.Pro15Ser
ENST00000377962.7:c.43C>T ENSP00000367198.3:p.Pro15Ser
ENST00000448904.6:c.43C>T ENSP00000388576.2:p.Pro15Ser
NM_001011705.1:c.43C>T NP_001011705.1:p.Pro15Ser
NM_007015.2:c.43C>T NP_008946.1:p.Pro15Ser
XM_006719761.2:c.124C>T XP_006719824.2:p.Pro42Ser
XM_011534897.1:c.124C>T XP_011533199.1:p.Pro42Ser
XM_011534898.1:c.124C>T XP_011533200.1:p.Pro42Ser
XM_011534899.1:c.124C>T XP_011533201.1:p.Pro42Ser
XM_011534900.1:c.124C>T XP_011533202.1:p.Pro42Ser
XM_011534897.2:c.124C>T XP_011533199.1:p.Pro42Ser
XM_011534898.2:c.124C>T XP_011533200.1:p.Pro42Ser
XM_011534899.2:c.124C>T XP_011533201.1:p.Pro42Ser
XM_011534900.2:c.124C>T XP_011533202.1:p.Pro42Ser
NM_007015.3:c.43C>T MANE Select NP_008946.1:p.Pro15Ser
NM_001011705.2:c.43C>T NP_001011705.1:p.Pro15Ser
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