Canonical Allele Identifier: CA360969107

Gene: AFF4

Linked Data

• MyVariant Identifiers: chr5:g.132222013C>T (hg19) ; chr5:g.132886321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132886321C>T , CM000667.2:g.132886321C>T	GRCh38
NC_000005.9:g.132222013C>T , CM000667.1:g.132222013C>T	GRCh37
NC_000005.8:g.132249912C>T	NCBI36
NG_030340.1:g.82342G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.3088G>A MANE Select	ENSP00000265343.5:p.Glu1030Lys
ENST00000265343.9:c.3088G>A	ENSP00000265343.5:p.Glu1030Lys
NM_014423.3:c.3088G>A	NP_055238.1:p.Glu1030Lys
XM_005271963.3:c.3088G>A	XP_005272020.1:p.Glu1030Lys
XM_005271964.3:c.1954G>A	XP_005272021.1:p.Glu652Lys
XM_006714587.2:c.3001G>A	XP_006714650.1:p.Glu1001Lys
XM_005271963.5:c.3088G>A	XP_005272020.1:p.Glu1030Lys
XM_005271964.4:c.1954G>A	XP_005272021.1:p.Glu652Lys
XM_006714587.4:c.3001G>A	XP_006714650.1:p.Glu1001Lys
NM_014423.4:c.3088G>A MANE Select	NP_055238.1:p.Glu1030Lys