Canonical Allele Identifier: CA396536513
Community Standard Title: NM_005360.5(MAF):c.180G>T (p.Met60Ile)
Gene: MAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.79599723C>A , CM000678.2:g.79599723C>A GRCh38
NC_000016.9:g.79633620C>A , CM000678.1:g.79633620C>A GRCh37
NC_000016.8:g.78191121C>A NCBI36
NG_016440.1:g.6003G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005360.5:c.180G>T MANE Select NP_005351.2:p.Met60Ile
ENST00000326043.5:c.180G>T MANE Select ENSP00000327048.4:p.Met60Ile
NM_001031804.2:c.180G>T NP_001026974.1:p.Met60Ile
NM_001031804.3:c.180G>T NP_001026974.1:p.Met60Ile
NM_005360.4:c.180G>T NP_005351.2:p.Met60Ile
ENST00000326043.4:c.180G>T ENSP00000327048.4:p.Met60Ile
ENST00000393350.1:c.180G>T ENSP00000377019.1:p.Met60Ile
ENST00000569649.1:c.180G>T ENSP00000455097.1:p.Met60Ile
XM_011523084.1:c.180G>T XP_011521386.1:p.Met60Ile
XM_017023233.2:c.180G>T XP_016878722.1:p.Met60Ile
XM_017023234.2:c.180G>T XP_016878723.1:p.Met60Ile
XM_017023235.2:c.180G>T XP_016878724.1:p.Met60Ile
XM_024450279.1:c.180G>T XP_024306047.1:p.Met60Ile
XR_001751902.2:n.2230G>T
XR_002957802.1:n.2230G>T
XR_002957803.1:n.2230G>T
XR_002957804.1:n.2230G>T