Canonical Allele Identifier: CA243237505

Gene: ABTB3

Linked Data

• dbSNP Id: rs117397920
• gnomAD v2: 12-107961749-G-A
• gnomAD v3: 12-107567972-G-A
• gnomAD v4: 12-107567972-G-A
• MyVariant Identifiers: chr12:g.107961749G>A (hg19) ; chr12:g.107567972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.107567972G>A , CM000674.2:g.107567972G>A	GRCh38
NC_000012.11:g.107961749G>A , CM000674.1:g.107961749G>A	GRCh37
NC_000012.10:g.106485879G>A	NCBI36
NG_052621.1:g.255805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280758.10:c.1491-13180G>A MANE Select	ENSP00000280758.5:n.1491-13180G>A
ENST00000280758.9:c.1491-13180G>A	ENSP00000280758.5:n.1491-13180G>A
ENST00000415943.6:c.393-13180G>A	ENSP00000407416.2:n.393-13180G>A
ENST00000420571.6:c.1491-13180G>A	ENSP00000413889.2:n.1491-13180G>A
ENST00000490090.6:c.1491-13180G>A	ENSP00000447319.1:n.1491-13180G>A
ENST00000550706.5:c.384-13180G>A	ENSP00000447606.1:n.384-13180G>A
NM_001018072.1:c.1491-13180G>A	NP_001018082.1:n.1491-13180G>A
XM_005268645.3:c.360-13180G>A	XP_005268702.1:n.360-13180G>A
XM_011537908.1:c.1490+23833G>A	XP_011536210.1:n.1490+23833G>A
XM_011537909.1:c.450-13180G>A	XP_011536211.1:n.450-13180G>A
XM_011537910.1:c.393-13180G>A	XP_011536212.1:n.393-13180G>A
NM_001347943.1:c.1491-13180G>A	NP_001334872.1:n.1491-13180G>A
NM_001347944.1:c.393-13180G>A	NP_001334873.1:n.393-13180G>A
XM_011537909.2:c.450-13180G>A	XP_011536211.1:n.450-13180G>A
XM_011537910.3:c.393-13180G>A	XP_011536212.1:n.393-13180G>A
XM_017018807.2:c.1491-13180G>A	XP_016874296.1:n.1491-13180G>A
NM_001018072.2:c.1491-13180G>A MANE Select	NP_001018082.1:n.1491-13180G>A
NM_001347943.2:c.1491-13180G>A	NP_001334872.1:n.1491-13180G>A