Canonical Allele Identifier: CA2838226352

Gene: ANKRD54

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37833608C>A , CM000684.2:g.37833608C>A	GRCh38
NC_000022.10:g.38229615C>A , CM000684.1:g.38229615C>A	GRCh37
NC_000022.9:g.36559561C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215941.9:c.547+76G>T MANE Select	ENSP00000215941.4:n.547+76G>T
ENST00000215941.8:c.547+76G>T	ENSP00000215941.4:n.547+76G>T
ENST00000406423.5:c.187+76G>T	ENSP00000384392.1:n.187+76G>T
ENST00000407117.6:c.148+76G>T	ENSP00000385180.2:n.148+76G>T
ENST00000411961.6:c.499+76G>T	ENSP00000405782.2:n.499+76G>T
ENST00000413497.5:c.580+76G>T
ENST00000424350.5:c.148+76G>T	ENSP00000393035.1:n.148+76G>T
ENST00000434930.1:c.547+76G>T	ENSP00000387507.1:n.547+76G>T
ENST00000458278.6:c.315+76G>T
ENST00000464849.5:n.214+76G>T
ENST00000498417.5:n.884+76G>T
ENST00000609454.5:c.93+76G>T	ENSP00000477088.1:n.93+76G>T
NM_138797.2:c.547+76G>T	NP_620152.1:n.547+76G>T
NR_036556.1:n.650+76G>T
XM_006724136.1:c.192+76G>T	XP_006724199.1:n.192+76G>T
XM_006724137.1:c.153+76G>T	XP_006724200.1:n.153+76G>T
XM_011529877.1:c.603+76G>T	XP_011528179.1:n.603+76G>T
XM_011529878.1:c.408+76G>T	XP_011528180.1:n.408+76G>T
XM_011529879.1:c.253+76G>T	XP_011528181.1:n.253+76G>T
XM_011529880.1:c.153+76G>T	XP_011528182.1:n.153+76G>T
XM_011529881.1:c.*44+76G>T	XP_011528183.1:n.*44+76G>T
XM_011529882.1:c.187+76G>T	XP_011528184.1:n.187+76G>T
XM_011529883.1:c.148+76G>T	XP_011528185.1:n.148+76G>T
XM_011529884.1:c.148+76G>T	XP_011528186.1:n.148+76G>T
XR_937811.1:n.1023+76G>T
XR_937812.1:n.962+76G>T
NM_001349853.1:c.352+76G>T	NP_001336782.1:n.352+76G>T
NM_001363839.1:c.187+76G>T	NP_001350768.1:n.187+76G>T
NM_138797.3:c.547+76G>T	NP_620152.1:n.547+76G>T
NR_036556.2:n.751+76G>T
NR_146279.1:n.751+76G>T
NR_146280.1:n.746+76G>T
XM_011529877.2:c.603+76G>T	XP_011528179.1:n.603+76G>T
XM_011529882.2:c.187+76G>T	XP_011528184.1:n.187+76G>T
XM_011529884.2:c.148+76G>T	XP_011528186.1:n.148+76G>T
XR_001755167.1:n.1030+76G>T
XR_001755168.1:n.1030+76G>T
XR_002958664.1:n.961+76G>T
XR_002958665.1:n.450+76G>T
XR_937811.2:n.1024+76G>T
NM_138797.4:c.547+76G>T MANE Select	NP_620152.1:n.547+76G>T
NM_001349853.2:c.352+76G>T	NP_001336782.1:n.352+76G>T