Canonical Allele Identifier: CA357773166
Community Standard Title: NM_005908.4(MANBA):c.651C>G (p.Tyr217Ter)
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102714460G>C , CM000666.2:g.102714460G>C GRCh38
NC_000004.11:g.103635617G>C , CM000666.1:g.103635617G>C GRCh37
NC_000004.10:g.103854666G>C NCBI36
NG_012804.1:g.51535C>G
NG_012804.2:g.51535C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.651C>G MANE Select NP_005899.3:p.Tyr217Ter
ENST00000647097.2:c.651C>G MANE Select ENSP00000495247.1:p.Tyr217Ter
NM_005908.3:c.651C>G NP_005899.3:p.Tyr217Ter
ENST00000226578.8:c.651C>G ENSP00000226578.4:p.Tyr217Ter
ENST00000505239.1:c.480C>G ENSP00000427322.1:p.Tyr160Ter
ENST00000514430.5:n.698C>G
ENST00000642252.1:c.651C>G ENSP00000495483.1:p.Tyr217Ter
ENST00000644159.1:c.651C>G ENSP00000494462.1:p.Tyr217Ter
ENST00000644545.1:c.651C>G ENSP00000493992.1:p.Tyr217Ter
ENST00000645348.1:c.651C>G ENSP00000495363.1:p.Tyr217Ter
ENST00000645558.1:c.157C>G
ENST00000646311.1:c.651C>G ENSP00000493465.1:p.Tyr217Ter
ENST00000646451.1:c.576C>G ENSP00000495846.1:p.Tyr192Ter
ENST00000646727.1:c.651C>G ENSP00000493519.1:p.Tyr217Ter
ENST00000647129.1:c.333C>G ENSP00000496137.1:p.Tyr111Ter
XM_017008203.1:c.288C>G XP_016863692.1:p.Tyr96Ter
XM_017008204.2:c.25+8411C>G XP_016863693.1:n.25+8411C>G
XM_024454048.1:c.576C>G XP_024309816.1:p.Tyr192Ter
XM_024454049.1:c.288C>G XP_024309817.1:p.Tyr96Ter