Canonical Allele Identifier: CA175100
Gene: MAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.79599727G>A , CM000678.2:g.79599727G>A GRCh38
NC_000016.9:g.79633624G>A , CM000678.1:g.79633624G>A GRCh37
NC_000016.8:g.78191125G>A NCBI36
NG_016440.1:g.5999C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005360.5:c.176C>T MANE Select NP_005351.2:p.Pro59Leu
ENST00000326043.5:c.176C>T MANE Select ENSP00000327048.4:p.Pro59Leu
NM_001031804.2:c.176C>T NP_001026974.1:p.Pro59Leu
NM_001031804.3:c.176C>T NP_001026974.1:p.Pro59Leu
NM_005360.4:c.176C>T NP_005351.2:p.Pro59Leu
ENST00000326043.4:c.176C>T ENSP00000327048.4:p.Pro59Leu
ENST00000393350.1:c.176C>T ENSP00000377019.1:p.Pro59Leu
ENST00000569649.1:c.176C>T ENSP00000455097.1:p.Pro59Leu
XM_011523084.1:c.176C>T XP_011521386.1:p.Pro59Leu
XM_017023233.2:c.176C>T XP_016878722.1:p.Pro59Leu
XM_017023234.2:c.176C>T XP_016878723.1:p.Pro59Leu
XM_017023235.2:c.176C>T XP_016878724.1:p.Pro59Leu
XM_024450279.1:c.176C>T XP_024306047.1:p.Pro59Leu
XR_001751902.2:n.2226C>T
XR_002957802.1:n.2226C>T
XR_002957803.1:n.2226C>T
XR_002957804.1:n.2226C>T