Canonical Allele Identifier: CA8934302

Gene: ASXL3

Linked Data

• dbSNP Id: rs768945424
• ExAC: 18:31324467 T / C
• gnomAD v2: 18-31324467-T-C
• gnomAD v3: 18-33744503-T-C
• gnomAD v4: 18-33744503-T-C
• MyVariant Identifiers: chr18:g.31324467T>C (hg19) ; chr18:g.33744503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744503T>C , CM000680.2:g.33744503T>C	GRCh38
NC_000018.9:g.31324467T>C , CM000680.1:g.31324467T>C	GRCh37
NC_000018.8:g.29578465T>C	NCBI36
NG_055244.1:g.170927T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4658T>C	ENSP00000513003.1:p.Leu1553Ser
ENST00000269197.12:c.4655T>C MANE Select	ENSP00000269197.4:p.Leu1552Ser
ENST00000681521.1:c.4535T>C	ENSP00000506037.1:p.Leu1512Ser
ENST00000269197.9:c.4655T>C	ENSP00000269197.4:p.Leu1552Ser
NM_030632.1:c.4655T>C	NP_085135.1:p.Leu1552Ser
XM_005258356.1:c.4658T>C	XP_005258413.1:p.Leu1553Ser
XM_011526205.1:c.4631T>C	XP_011524507.1:p.Leu1544Ser
XM_011526206.1:c.4577T>C	XP_011524508.1:p.Leu1526Ser
XM_011526207.1:c.4577T>C	XP_011524509.1:p.Leu1526Ser
XM_011526208.1:c.4538T>C	XP_011524510.1:p.Leu1513Ser
XM_011526209.1:c.4487T>C	XP_011524511.1:p.Leu1496Ser
XM_011526210.1:c.4487T>C	XP_011524512.1:p.Leu1496Ser
XM_011526211.1:c.4487T>C	XP_011524513.1:p.Leu1496Ser
XM_011526212.1:c.4487T>C	XP_011524514.1:p.Leu1496Ser
XM_011526213.1:c.4487T>C	XP_011524515.1:p.Leu1496Ser
XM_011526214.1:c.4487T>C	XP_011524516.1:p.Leu1496Ser
XM_011526215.1:c.1619T>C	XP_011524517.1:p.Leu540Ser
NM_030632.2:c.4655T>C	NP_085135.1:p.Leu1552Ser
XM_011526205.2:c.4631T>C	XP_011524507.1:p.Leu1544Ser
XM_011526206.2:c.4577T>C	XP_011524508.1:p.Leu1526Ser
XM_011526213.2:c.4487T>C	XP_011524515.1:p.Leu1496Ser
XM_017026012.1:c.4577T>C	XP_016881501.1:p.Leu1526Ser
XM_017026013.1:c.4487T>C	XP_016881502.1:p.Leu1496Ser
XM_017026014.2:c.4487T>C	XP_016881503.1:p.Leu1496Ser
XM_024451269.1:c.4487T>C	XP_024307037.1:p.Leu1496Ser
NM_030632.3:c.4655T>C MANE Select	NP_085135.1:p.Leu1552Ser