Canonical Allele Identifier: CA3026657

Gene: MANBA

Linked Data

• ClinVar Variation Id: 475412
• ClinVar RCV Id: RCV000538639
• dbSNP Id: rs538584064
• ExAC: 4:103556078 C / G
• gnomAD v2: 4-103556078-C-G
• gnomAD v3: 4-102634921-C-G
• gnomAD v4: 4-102634921-C-G
• MyVariant Identifiers: chr4:g.103556078C>G (hg19) ; chr4:g.102634921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102634921C>G , CM000666.2:g.102634921C>G	GRCh38
NC_000004.11:g.103556078C>G , CM000666.1:g.103556078C>G	GRCh37
NC_000004.10:g.103775126C>G	NCBI36
NG_012804.1:g.131074G>C
NG_012804.2:g.131074G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642252.1:c.2420G>C	ENSP00000495483.1:p.Cys807Ser
ENST00000644159.1:c.2282G>C	ENSP00000494462.1:p.Cys761Ser
ENST00000644545.1:c.*922G>C	ENSP00000493992.1:n.*922G>C
ENST00000645348.1:c.*1304G>C	ENSP00000495363.1:n.*1304G>C
ENST00000645558.1:c.1950G>C
ENST00000646311.1:c.*1402G>C	ENSP00000493465.1:n.*1402G>C
ENST00000646727.1:c.*1136G>C	ENSP00000493519.1:n.*1136G>C
ENST00000647097.2:c.2282G>C MANE Select	ENSP00000495247.1:p.Cys761Ser
ENST00000647129.1:c.2371G>C	ENSP00000496137.1:n.2371G>C
ENST00000226578.8:c.2282G>C	ENSP00000226578.4:p.Cys761Ser
ENST00000505239.1:c.2111G>C	ENSP00000427322.1:p.Cys704Ser
ENST00000514430.5:n.6517G>C
NM_005908.3:c.2282G>C	NP_005899.3:p.Cys761Ser
XM_011531965.1:c.1376G>C	XP_011530267.1:p.Cys459Ser
XM_011531966.1:c.1037G>C	XP_011530268.1:p.Cys346Ser
XM_017008203.1:c.1919G>C	XP_016863692.1:p.Cys640Ser
XM_017008204.2:c.1634G>C	XP_016863693.1:p.Cys545Ser
XM_017008205.2:c.1076G>C	XP_016863694.1:p.Cys359Ser
XM_024454048.1:c.2207G>C	XP_024309816.1:p.Cys736Ser
XM_024454049.1:c.1919G>C	XP_024309817.1:p.Cys640Ser
NM_005908.4:c.2282G>C MANE Select	NP_005899.3:p.Cys761Ser