Canonical Allele Identifier: CA554048545

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102635062C>T , CM000666.2:g.102635062C>T	GRCh38
NC_000004.11:g.103556219C>T , CM000666.1:g.103556219C>T	GRCh37
NC_000004.10:g.103775267C>T	NCBI36
NG_012804.1:g.130933G>A
NG_012804.2:g.130933G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2158-17G>A MANE Select	NP_005899.3:n.2158-17G>A
ENST00000647097.2:c.2158-17G>A MANE Select	ENSP00000495247.1:n.2158-17G>A
NM_005908.3:c.2158-17G>A	NP_005899.3:n.2158-17G>A
ENST00000226578.8:c.2158-17G>A	ENSP00000226578.4:n.2158-17G>A
ENST00000505239.1:c.1987-17G>A	ENSP00000427322.1:n.1987-17G>A
ENST00000514430.5:n.6393-17G>A
ENST00000642252.1:c.2296-17G>A	ENSP00000495483.1:n.2296-17G>A
ENST00000644159.1:c.2158-17G>A	ENSP00000494462.1:n.2158-17G>A
ENST00000644545.1:c.*798-17G>A	ENSP00000493992.1:n.*798-17G>A
ENST00000645348.1:c.*1180-17G>A	ENSP00000495363.1:n.*1180-17G>A
ENST00000645558.1:c.1826-17G>A
ENST00000646311.1:c.*1278-17G>A	ENSP00000493465.1:n.*1278-17G>A
ENST00000646727.1:c.*1012-17G>A	ENSP00000493519.1:n.*1012-17G>A
ENST00000647129.1:c.2247-17G>A	ENSP00000496137.1:n.2247-17G>A
XM_011531965.1:c.1252-17G>A	XP_011530267.1:n.1252-17G>A
XM_011531966.1:c.913-17G>A	XP_011530268.1:n.913-17G>A
XM_017008203.1:c.1795-17G>A	XP_016863692.1:n.1795-17G>A
XM_017008204.2:c.1510-17G>A	XP_016863693.1:n.1510-17G>A
XM_017008205.2:c.952-17G>A	XP_016863694.1:n.952-17G>A
XM_024454048.1:c.2083-17G>A	XP_024309816.1:n.2083-17G>A
XM_024454049.1:c.1795-17G>A	XP_024309817.1:n.1795-17G>A