Canonical Allele Identifier: CA357770379
Community Standard Title: NM_005908.4(MANBA):c.674-2A>G
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102690773T>C , CM000666.2:g.102690773T>C GRCh38
NC_000004.11:g.103611930T>C , CM000666.1:g.103611930T>C GRCh37
NC_000004.10:g.103830978T>C NCBI36
NG_012804.1:g.75222A>G
NG_012804.2:g.75222A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.674-2A>G MANE Select NP_005899.3:n.674-2A>G
ENST00000647097.2:c.674-2A>G MANE Select ENSP00000495247.1:n.674-2A>G
NM_005908.3:c.674-2A>G NP_005899.3:n.674-2A>G
ENST00000226578.8:c.674-2A>G ENSP00000226578.4:n.674-2A>G
ENST00000505239.1:c.503-2A>G ENSP00000427322.1:n.503-2A>G
ENST00000514430.5:n.799-2A>G
ENST00000642252.1:c.674-2A>G ENSP00000495483.1:n.674-2A>G
ENST00000644159.1:c.674-2A>G ENSP00000494462.1:n.674-2A>G
ENST00000644545.1:c.674-2A>G ENSP00000493992.1:n.674-2A>G
ENST00000645348.1:c.674-2A>G ENSP00000495363.1:n.674-2A>G
ENST00000645558.1:c.180-2A>G
ENST00000646311.1:c.674-2A>G ENSP00000493465.1:n.674-2A>G
ENST00000646727.1:c.674-2A>G ENSP00000493519.1:n.674-2A>G
ENST00000647129.1:c.356-2A>G ENSP00000496137.1:n.356-2A>G
XM_011531965.1:c.-233-2A>G XP_011530267.1:n.-233-2A>G
XM_017008203.1:c.311-2A>G XP_016863692.1:n.311-2A>G
XM_017008204.2:c.26-2A>G XP_016863693.1:n.26-2A>G
XM_024454048.1:c.599-2A>G XP_024309816.1:n.599-2A>G
XM_024454049.1:c.311-2A>G XP_024309817.1:n.311-2A>G