Canonical Allele Identifier: CA370690900

Gene: ASH2L

Linked Data

• MyVariant Identifiers: chr8:g.37996337T>A (hg19) ; chr8:g.38138819T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38138819T>A , CM000670.2:g.38138819T>A	GRCh38
NC_000008.10:g.37996337T>A , CM000670.1:g.37996337T>A	GRCh37
NC_000008.9:g.38115494T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343823.11:c.1723T>A MANE Select	ENSP00000340896.5:p.Ser575Thr
ENST00000343823.10:c.1723T>A	ENSP00000340896.5:p.Ser575Thr
ENST00000428278.6:c.1441T>A	ENSP00000395310.2:p.Ser481Thr
ENST00000517496.5:c.*1211T>A	ENSP00000430889.1:n.*1211T>A
ENST00000520079.1:n.1325T>A
ENST00000521652.5:c.1342T>A	ENSP00000430259.1:p.Ser448Thr
ENST00000521808.5:c.107T>A
ENST00000524247.5:c.509T>A
ENST00000545394.2:c.1306T>A	ENSP00000443606.1:p.Ser436Thr
NM_001105214.2:c.1441T>A	NP_001098684.1:p.Ser481Thr
NM_001261832.1:c.1342T>A	NP_001248761.1:p.Ser448Thr
NM_001282272.1:c.1306T>A	NP_001269201.1:p.Ser436Thr
NM_004674.4:c.1723T>A	NP_004665.2:p.Ser575Thr
XM_005273682.1:c.1741T>A	XP_005273739.1:p.Ser581Thr
XM_005273683.1:c.1459T>A	XP_005273740.1:p.Ser487Thr
XM_006716412.1:c.1642T>A	XP_006716475.1:p.Ser548Thr
XM_006716413.1:c.1624T>A	XP_006716476.1:p.Ser542Thr
XM_006716413.3:c.1624T>A	XP_006716476.1:p.Ser542Thr
NM_004674.5:c.1723T>A MANE Select	NP_004665.2:p.Ser575Thr