Canonical Allele Identifier: CA14951489

Gene: ANKRD54

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37831814C>G , CM000684.2:g.37831814C>G	GRCh38
NC_000022.10:g.38227821C>G , CM000684.1:g.38227821C>G	GRCh37
NC_000022.9:g.36557767C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215941.9:c.*129G>C MANE Select	ENSP00000215941.4:n.*129G>C
ENST00000215941.8:c.*129G>C	ENSP00000215941.4:n.*129G>C
ENST00000498417.5:n.1445G>C
NM_138797.2:c.*129G>C	NP_620152.1:n.*129G>C
NR_036556.1:n.1135G>C
XM_006724136.1:c.*129G>C	XP_006724199.1:n.*129G>C
XM_006724137.1:c.*129G>C	XP_006724200.1:n.*129G>C
XM_011529877.1:c.*129G>C	XP_011528179.1:n.*129G>C
XM_011529878.1:c.*129G>C	XP_011528180.1:n.*129G>C
XM_011529879.1:c.*129G>C	XP_011528181.1:n.*129G>C
XM_011529880.1:c.*129G>C	XP_011528182.1:n.*129G>C
XM_011529882.1:c.*129G>C	XP_011528184.1:n.*129G>C
XM_011529883.1:c.*129G>C	XP_011528185.1:n.*129G>C
XM_011529884.1:c.*129G>C	XP_011528186.1:n.*129G>C
XR_937811.1:n.1508G>C
NM_001349853.1:c.*129G>C	NP_001336782.1:n.*129G>C
NM_001363839.1:c.*129G>C	NP_001350768.1:n.*129G>C
NM_138797.3:c.*129G>C	NP_620152.1:n.*129G>C
NR_036556.2:n.1236G>C
NR_146279.1:n.1236G>C
NR_146280.1:n.1231G>C
XM_011529877.2:c.*129G>C	XP_011528179.1:n.*129G>C
XM_011529882.2:c.*129G>C	XP_011528184.1:n.*129G>C
XM_011529884.2:c.*129G>C	XP_011528186.1:n.*129G>C
XR_001755167.1:n.1591G>C
XR_001755168.1:n.1515G>C
XR_002958664.1:n.1735G>C
XR_002958665.1:n.1224G>C
XR_937811.2:n.1509G>C
NM_138797.4:c.*129G>C MANE Select	NP_620152.1:n.*129G>C
NM_001349853.2:c.*129G>C	NP_001336782.1:n.*129G>C