Canonical Allele Identifier: CA8934221

Gene: ASXL3

Linked Data

• dbSNP Id: rs775057703
• ExAC: 18:31324084 C / A
• gnomAD v2: 18-31324084-C-A
• gnomAD v4: 18-33744120-C-A
• COSMIC: COSM1718105
• MyVariant Identifiers: chr18:g.31324084C>A (hg19) ; chr18:g.33744120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744120C>A , CM000680.2:g.33744120C>A	GRCh38
NC_000018.9:g.31324084C>A , CM000680.1:g.31324084C>A	GRCh37
NC_000018.8:g.29578082C>A	NCBI36
NG_055244.1:g.170544C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.4275C>A	ENSP00000513003.1:p.Asn1425Lys
ENST00000269197.12:c.4272C>A MANE Select	ENSP00000269197.4:p.Asn1424Lys
ENST00000681521.1:c.4152C>A	ENSP00000506037.1:p.Asn1384Lys
ENST00000269197.9:c.4272C>A	ENSP00000269197.4:p.Asn1424Lys
NM_030632.1:c.4272C>A	NP_085135.1:p.Asn1424Lys
XM_005258356.1:c.4275C>A	XP_005258413.1:p.Asn1425Lys
XM_011526205.1:c.4248C>A	XP_011524507.1:p.Asn1416Lys
XM_011526206.1:c.4194C>A	XP_011524508.1:p.Asn1398Lys
XM_011526207.1:c.4194C>A	XP_011524509.1:p.Asn1398Lys
XM_011526208.1:c.4155C>A	XP_011524510.1:p.Asn1385Lys
XM_011526209.1:c.4104C>A	XP_011524511.1:p.Asn1368Lys
XM_011526210.1:c.4104C>A	XP_011524512.1:p.Asn1368Lys
XM_011526211.1:c.4104C>A	XP_011524513.1:p.Asn1368Lys
XM_011526212.1:c.4104C>A	XP_011524514.1:p.Asn1368Lys
XM_011526213.1:c.4104C>A	XP_011524515.1:p.Asn1368Lys
XM_011526214.1:c.4104C>A	XP_011524516.1:p.Asn1368Lys
XM_011526215.1:c.1236C>A	XP_011524517.1:p.Asn412Lys
NM_030632.2:c.4272C>A	NP_085135.1:p.Asn1424Lys
XM_011526205.2:c.4248C>A	XP_011524507.1:p.Asn1416Lys
XM_011526206.2:c.4194C>A	XP_011524508.1:p.Asn1398Lys
XM_011526213.2:c.4104C>A	XP_011524515.1:p.Asn1368Lys
XM_017026012.1:c.4194C>A	XP_016881501.1:p.Asn1398Lys
XM_017026013.1:c.4104C>A	XP_016881502.1:p.Asn1368Lys
XM_017026014.2:c.4104C>A	XP_016881503.1:p.Asn1368Lys
XM_024451269.1:c.4104C>A	XP_024307037.1:p.Asn1368Lys
NM_030632.3:c.4272C>A MANE Select	NP_085135.1:p.Asn1424Lys