Canonical Allele Identifier: CA15459462

Gene: ANKS1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35007638T>C , CM000668.2:g.35007638T>C	GRCh38
NC_000006.11:g.34975415T>C , CM000668.1:g.34975415T>C	GRCh37
NC_000006.10:g.35083393T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360359.5:c.1424-9835T>C MANE Select	ENSP00000353518.3:n.1424-9835T>C
ENST00000649117.1:c.1487-9835T>C	ENSP00000497393.1:n.1487-9835T>C
ENST00000360359.4:c.1424-9835T>C	ENSP00000353518.3:n.1424-9835T>C
NM_015245.2:c.1424-9835T>C	NP_056060.2:n.1424-9835T>C
XM_005248964.2:c.1487-9835T>C	XP_005249021.1:n.1487-9835T>C
XM_006715036.2:c.1487-9835T>C	XP_006715099.1:n.1487-9835T>C
XM_011514431.1:c.1487-9835T>C	XP_011512733.1:n.1487-9835T>C
XM_011514432.1:c.1487-9835T>C	XP_011512734.1:n.1487-9835T>C
XM_011514433.1:c.1487-9835T>C	XP_011512735.1:n.1487-9835T>C
XM_011514434.1:c.1424-9835T>C	XP_011512736.1:n.1424-9835T>C
XM_011514435.1:c.1424-9835T>C	XP_011512737.1:n.1424-9835T>C
XM_011514436.1:c.1289-9835T>C	XP_011512738.1:n.1289-9835T>C
XM_005248964.3:c.1487-9835T>C	XP_005249021.1:n.1487-9835T>C
XM_011514431.3:c.1487-9835T>C	XP_011512733.1:n.1487-9835T>C
XM_011514432.3:c.1487-9835T>C	XP_011512734.1:n.1487-9835T>C
XM_011514434.3:c.1424-9835T>C	XP_011512736.1:n.1424-9835T>C
XM_011514435.3:c.1424-9835T>C	XP_011512737.1:n.1424-9835T>C
XM_011514436.3:c.1289-9835T>C	XP_011512738.1:n.1289-9835T>C
XM_024446383.1:c.1487-9835T>C	XP_024302151.1:n.1487-9835T>C
NM_015245.3:c.1424-9835T>C MANE Select	NP_056060.2:n.1424-9835T>C