Canonical Allele Identifier: CA2838251108

Gene: ZBTB48

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6587653C>A , CM000663.2:g.6587653C>A	GRCh38
NC_000001.10:g.6647713C>A , CM000663.1:g.6647713C>A	GRCh37
NC_000001.9:g.6570300C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377674.9:c.1379+21C>A MANE Select	ENSP00000366902.4:n.1379+21C>A
ENST00000377674.8:c.1379+21C>A	ENSP00000366902.4:n.1379+21C>A
ENST00000466813.1:c.154+21C>A	ENSP00000467104.1:n.154+21C>A
ENST00000482360.5:n.1728+21C>A
ENST00000488936.1:c.644+21C>A	ENSP00000466390.1:n.644+21C>A
ENST00000498342.5:n.1240+21C>A
ENST00000619514.1:c.*311+21C>A	ENSP00000482731.1:n.*311+21C>A
NM_001278647.1:c.1379+21C>A	NP_001265576.1:n.1379+21C>A
NM_001278648.1:c.1379+21C>A	NP_001265577.1:n.1379+21C>A
NM_005341.3:c.1379+21C>A	NP_005332.1:n.1379+21C>A
XM_011541310.1:c.452+21C>A	XP_011539612.1:n.452+21C>A
XM_011541311.1:c.293+21C>A	XP_011539613.1:n.293+21C>A
XM_011541312.1:c.293+21C>A	XP_011539614.1:n.293+21C>A
XR_946621.1:n.1563+21C>A
XR_946622.1:n.1683+21C>A
XR_946623.1:n.1664+21C>A
XM_017001112.2:c.293+21C>A	XP_016856601.1:n.293+21C>A
XM_017001113.2:c.293+21C>A	XP_016856602.1:n.293+21C>A
XM_017001114.2:c.293+21C>A	XP_016856603.1:n.293+21C>A
XR_001737135.2:n.1525+21C>A
XR_001737136.1:n.1504+21C>A
XR_946621.3:n.1470+21C>A
NM_005341.4:c.1379+21C>A MANE Select	NP_005332.1:n.1379+21C>A
NM_001278647.2:c.1379+21C>A	NP_001265576.1:n.1379+21C>A
NM_001278648.2:c.1379+21C>A	NP_001265577.1:n.1379+21C>A