Canonical Allele Identifier: CA413190387

Gene: AKAP4

Linked Data

• MyVariant Identifiers: chrX:g.49957746G>T (hg19) ; chrX:g.50193095G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193095G>T , CM000685.2:g.50193095G>T	GRCh38
NC_000023.10:g.49957746G>T , CM000685.1:g.49957746G>T	GRCh37
NC_000023.9:g.49844486G>T	NCBI36
NG_012552.1:g.12919C>A
NG_012552.2:g.12919C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1618C>A MANE Select	ENSP00000351327.2:p.Leu540Met
ENST00000358526.6:c.1618C>A	ENSP00000351327.2:p.Leu540Met
ENST00000376064.7:c.1591C>A	ENSP00000365232.3:p.Leu531Met
ENST00000448865.5:c.542-73C>A	ENSP00000402403.1:n.542-73C>A
ENST00000481402.5:n.1730C>A
NM_003886.2:c.1618C>A	NP_003877.2:p.Leu540Met
NM_139289.1:c.1591C>A	NP_647450.1:p.Leu531Met
NM_003886.3:c.1618C>A MANE Select	NP_003877.2:p.Leu540Met
NM_139289.2:c.1591C>A	NP_647450.1:p.Leu531Met