Canonical Allele Identifier: CA357961625

Gene: MANBA

Linked Data

• ClinVar Variation Id: 1957738
• ClinVar RCV Id: RCV002690853
• gnomAD v4: 4-102760840-C-T
• MyVariant Identifiers: chr4:g.103681997C>T (hg19) ; chr4:g.102760840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102760840C>T , CM000666.2:g.102760840C>T	GRCh38
NC_000004.11:g.103681997C>T , CM000666.1:g.103681997C>T	GRCh37
NC_000004.10:g.103901042C>T	NCBI36
NG_012804.1:g.5155G>A
NG_012804.2:g.5155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642252.1:c.55G>A	ENSP00000495483.1:p.Ala19Thr
ENST00000644159.1:c.55G>A	ENSP00000494462.1:p.Ala19Thr
ENST00000644545.1:c.55G>A	ENSP00000493992.1:p.Ala19Thr
ENST00000644965.1:c.55G>A	ENSP00000495818.1:p.Ala19Thr
ENST00000645348.1:c.55G>A	ENSP00000495363.1:p.Ala19Thr
ENST00000646311.1:c.55G>A	ENSP00000493465.1:p.Ala19Thr
ENST00000646727.1:c.55G>A	ENSP00000493519.1:p.Ala19Thr
ENST00000647097.2:c.55G>A MANE Select	ENSP00000495247.1:p.Ala19Thr
ENST00000226578.8:c.55G>A	ENSP00000226578.4:p.Ala19Thr
ENST00000505239.1:c.55G>A	ENSP00000427322.1:p.Ala19Thr
ENST00000507358.1:n.155G>A
ENST00000511813.1:c.55G>A	ENSP00000422001.1:p.Ala19Thr
ENST00000514430.5:n.102G>A
NM_005908.3:c.55G>A	NP_005899.3:p.Ala19Thr
XM_017008204.2:c.-470G>A	XP_016863693.1:n.-470G>A
NM_005908.4:c.55G>A MANE Select	NP_005899.3:p.Ala19Thr