Canonical Allele Identifier: CA413189634

Gene: AKAP4

Linked Data

• MyVariant Identifiers: chrX:g.49957574G>A (hg19) ; chrX:g.50192923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192923G>A , CM000685.2:g.50192923G>A	GRCh38
NC_000023.10:g.49957574G>A , CM000685.1:g.49957574G>A	GRCh37
NC_000023.9:g.49844314G>A	NCBI36
NG_012552.1:g.13091C>T
NG_012552.2:g.13091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1790C>T MANE Select	ENSP00000351327.2:p.Ser597Leu
ENST00000358526.6:c.1790C>T	ENSP00000351327.2:p.Ser597Leu
ENST00000376064.7:c.1763C>T	ENSP00000365232.3:p.Ser588Leu
ENST00000481402.5:n.1902C>T
NM_003886.2:c.1790C>T	NP_003877.2:p.Ser597Leu
NM_139289.1:c.1763C>T	NP_647450.1:p.Ser588Leu
NM_003886.3:c.1790C>T MANE Select	NP_003877.2:p.Ser597Leu
NM_139289.2:c.1763C>T	NP_647450.1:p.Ser588Leu