Canonical Allele Identifier: CA440633986
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102760763G>A , CM000666.2:g.102760763G>A GRCh38
NC_000004.11:g.103681920G>A , CM000666.1:g.103681920G>A GRCh37
NC_000004.10:g.103900965G>A NCBI36
NG_012804.1:g.5232C>T
NG_012804.2:g.5232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642252.1:c.132C>T ENSP00000495483.1:p.Val44=
ENST00000644159.1:c.132C>T ENSP00000494462.1:p.Val44=
ENST00000644545.1:c.132C>T ENSP00000493992.1:p.Val44=
ENST00000644965.1:c.132C>T ENSP00000495818.1:p.Val44=
ENST00000645348.1:c.132C>T ENSP00000495363.1:p.Val44=
ENST00000646311.1:c.132C>T ENSP00000493465.1:p.Val44=
ENST00000646727.1:c.132C>T ENSP00000493519.1:p.Val44=
ENST00000647097.2:c.132C>T MANE Select ENSP00000495247.1:p.Val44=
ENST00000226578.8:c.132C>T ENSP00000226578.4:p.Val44=
ENST00000505239.1:c.132C>T ENSP00000427322.1:p.Val44=
ENST00000507358.1:n.232C>T
ENST00000511813.1:c.132C>T ENSP00000422001.1:p.Val44=
ENST00000514430.5:n.179C>T
NM_005908.3:c.132C>T NP_005899.3:p.Val44=
XM_017008203.1:c.-405C>T XP_016863692.1:n.-405C>T
XM_017008204.2:c.-393C>T XP_016863693.1:n.-393C>T
NM_005908.4:c.132C>T MANE Select NP_005899.3:p.Val44=