Canonical Allele Identifier: CA346170082
Community Standard Title: NM_021831.6(AGBL5):c.323C>G (p.Pro108Arg)
Gene: AGBL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27053509C>G , CM000664.2:g.27053509C>G GRCh38
NC_000002.11:g.27276377C>G , CM000664.1:g.27276377C>G GRCh37
NC_000002.10:g.27129881C>G NCBI36
NG_052914.1:g.7087C>G

Transcript Alleles

HGVS Amino-acid Change
NM_021831.6:c.323C>G MANE Select NP_068603.4:p.Pro108Arg
ENST00000360131.5:c.323C>G MANE Select ENSP00000353249.4:p.Pro108Arg
NM_001035507.2:c.323C>G NP_001030584.1:p.Pro108Arg
NM_001035507.3:c.323C>G NP_001030584.1:p.Pro108Arg
NM_021831.5:c.323C>G NP_068603.4:p.Pro108Arg
NR_104246.1:n.540C>G
NR_104246.2:n.495C>G
NR_138023.1:n.501C>G
NR_138023.2:n.501C>G
ENST00000323064.12:c.323C>G ENSP00000323681.8:p.Pro108Arg
ENST00000360131.4:c.323C>G ENSP00000353249.4:p.Pro108Arg
ENST00000453161.5:c.323C>G ENSP00000394730.1:p.Pro108Arg
ENST00000477136.5:n.495C>G
ENST00000487078.5:c.323C>G ENSP00000433830.1:p.Pro108Arg
ENST00000489683.5:n.482C>G
XM_005264477.2:c.323C>G XP_005264534.1:p.Pro108Arg
XM_005264477.3:c.323C>G XP_005264534.1:p.Pro108Arg
XM_006712058.1:c.323C>G XP_006712121.1:p.Pro108Arg
XM_011533011.1:c.323C>G XP_011531313.1:p.Pro108Arg
XM_011533011.3:c.323C>G XP_011531313.1:p.Pro108Arg
XM_011533012.1:c.323C>G XP_011531314.1:p.Pro108Arg
XM_011533012.2:c.323C>G XP_011531314.1:p.Pro108Arg
XM_011533013.1:c.323C>G XP_011531315.1:p.Pro108Arg
XM_011533013.2:c.323C>G XP_011531315.1:p.Pro108Arg