Canonical Allele Identifier: CA345673288

Gene: ZBTB18

Linked Data

• dbSNP Id: rs753039108
• gnomAD v2: 1-244217678-C-A
• gnomAD v4: 1-244054376-C-A
• MyVariant Identifiers: chr1:g.244217678C>A (hg19) ; chr1:g.244054376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244054376C>A , CM000663.2:g.244054376C>A	GRCh38
NC_000001.10:g.244217678C>A , CM000663.1:g.244217678C>A	GRCh37
NC_000001.9:g.242284301C>A	NCBI36
NG_033841.1:g.10438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696615.1:c.575C>A	ENSP00000512755.1:p.Ala192Glu
ENST00000696616.1:c.575C>A	ENSP00000512756.1:p.Ala192Glu
ENST00000696617.1:c.*532C>A	ENSP00000512757.1:n.*532C>A
ENST00000696618.1:c.575C>A	ENSP00000512758.1:p.Ala192Glu
ENST00000358704.4:c.602C>A MANE Select	ENSP00000351539.4:p.Ala201Glu
ENST00000622512.1:c.575C>A	ENSP00000481278.1:p.Ala192Glu
NM_001278196.1:c.575C>A	NP_001265125.1:p.Ala192Glu
NM_006352.4:c.575C>A	NP_006343.2:p.Ala192Glu
NM_205768.2:c.602C>A	NP_991331.1:p.Ala201Glu
XM_005273006.2:c.575C>A	XP_005273063.1:p.Ala192Glu
XM_017000060.1:c.575C>A	XP_016855549.1:p.Ala192Glu
NM_001278196.2:c.575C>A	NP_001265125.1:p.Ala192Glu
NM_205768.3:c.602C>A MANE Select	NP_991331.1:p.Ala201Glu