Canonical Allele Identifier: CA386658134

Gene: ANKRD13A

Linked Data

• ClinVar Variation Id: 2547720
• ClinVar RCV Id: RCV004315459
• MyVariant Identifiers: chr12:g.110450969T>C (hg19) ; chr12:g.110013164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110013164T>C , CM000674.2:g.110013164T>C	GRCh38
NC_000012.11:g.110450969T>C , CM000674.1:g.110450969T>C	GRCh37
NC_000012.10:g.108935352T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261739.9:c.269T>C MANE Select	ENSP00000261739.4:p.Val90Ala
ENST00000261739.8:c.269T>C	ENSP00000261739.4:p.Val90Ala
ENST00000550404.1:n.528T>C
ENST00000553025.5:c.5T>C	ENSP00000474172.1:p.Val2Ala
NM_033121.1:c.269T>C	NP_149112.1:p.Val90Ala
XM_005253980.2:c.269T>C	XP_005254037.1:p.Val90Ala
XM_005253981.2:c.269T>C	XP_005254038.1:p.Val90Ala
XM_005253982.2:c.269T>C	XP_005254039.1:p.Val90Ala
XM_005253984.1:c.5T>C	XP_005254041.1:p.Val2Ala
XM_011538937.1:c.269T>C	XP_011537239.1:p.Val90Ala
XM_011538938.1:c.269T>C	XP_011537240.1:p.Val90Ala
XR_944812.1:n.568T>C
XM_005253980.3:c.269T>C	XP_005254037.1:p.Val90Ala
XM_005253981.3:c.269T>C	XP_005254038.1:p.Val90Ala
XM_005253982.3:c.269T>C	XP_005254039.1:p.Val90Ala
XM_011538938.2:c.269T>C	XP_011537240.1:p.Val90Ala
XM_017020157.1:c.269T>C	XP_016875646.1:p.Val90Ala
XM_017020158.1:c.269T>C	XP_016875647.1:p.Val90Ala
XM_017020162.1:c.269T>C	XP_016875651.1:p.Val90Ala
XM_017020163.1:c.-184T>C	XP_016875652.1:n.-184T>C
XR_944812.3:n.528T>C
NM_033121.2:c.269T>C MANE Select	NP_149112.1:p.Val90Ala