Canonical Allele Identifier: CA16043516
Gene: MAF HGNC NCBI

Linked Data

ClinVar Variation Id: 374075
ClinVar RCV Id: RCV000415117
dbSNP Id: rs1057518878

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.79599715G>C , CM000678.2:g.79599715G>C GRCh38
NC_000016.9:g.79633612G>C , CM000678.1:g.79633612G>C GRCh37
NC_000016.8:g.78191113G>C NCBI36
NG_016440.1:g.6011C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326043.5:c.188C>G MANE Select ENSP00000327048.4:p.Pro63Arg
ENST00000326043.4:c.188C>G ENSP00000327048.4:p.Pro63Arg
ENST00000393350.1:c.188C>G ENSP00000377019.1:p.Pro63Arg
ENST00000569649.1:c.188C>G ENSP00000455097.1:p.Pro63Arg
NM_001031804.2:c.188C>G NP_001026974.1:p.Pro63Arg
NM_005360.4:c.188C>G NP_005351.2:p.Pro63Arg
XM_011523084.1:c.188C>G XP_011521386.1:p.Pro63Arg
XM_017023233.2:c.188C>G XP_016878722.1:p.Pro63Arg
XM_017023234.2:c.188C>G XP_016878723.1:p.Pro63Arg
XM_017023235.2:c.188C>G XP_016878724.1:p.Pro63Arg
XM_024450279.1:c.188C>G XP_024306047.1:p.Pro63Arg
XR_001751902.2:n.2238C>G
XR_002957802.1:n.2238C>G
XR_002957803.1:n.2238C>G
XR_002957804.1:n.2238C>G
NM_005360.5:c.188C>G MANE Select NP_005351.2:p.Pro63Arg
NM_001031804.3:c.188C>G NP_001026974.1:p.Pro63Arg