Canonical Allele Identifier: CA345674056

Gene: ZBTB18

Linked Data

• gnomAD v4: 1-244054727-A-G
• MyVariant Identifiers: chr1:g.244218029A>G (hg19) ; chr1:g.244054727A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244054727A>G , CM000663.2:g.244054727A>G	GRCh38
NC_000001.10:g.244218029A>G , CM000663.1:g.244218029A>G	GRCh37
NC_000001.9:g.242284652A>G	NCBI36
NG_033841.1:g.10789A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696615.1:c.*130A>G	ENSP00000512755.1:n.*130A>G
ENST00000696616.1:c.926A>G	ENSP00000512756.1:p.Tyr309Cys
ENST00000696617.1:c.*883A>G	ENSP00000512757.1:n.*883A>G
ENST00000696618.1:c.926A>G	ENSP00000512758.1:p.Tyr309Cys
ENST00000358704.4:c.953A>G MANE Select	ENSP00000351539.4:p.Tyr318Cys
ENST00000622512.1:c.926A>G	ENSP00000481278.1:p.Tyr309Cys
NM_001278196.1:c.926A>G	NP_001265125.1:p.Tyr309Cys
NM_006352.4:c.926A>G	NP_006343.2:p.Tyr309Cys
NM_205768.2:c.953A>G	NP_991331.1:p.Tyr318Cys
XM_005273006.2:c.926A>G	XP_005273063.1:p.Tyr309Cys
XM_017000060.1:c.926A>G	XP_016855549.1:p.Tyr309Cys
NM_001278196.2:c.926A>G	NP_001265125.1:p.Tyr309Cys
NM_205768.3:c.953A>G MANE Select	NP_991331.1:p.Tyr318Cys