Canonical Allele Identifier: CA413189224

Gene: AKAP4

Linked Data

• MyVariant Identifiers: chrX:g.49957484G>A (hg19) ; chrX:g.50192833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192833G>A , CM000685.2:g.50192833G>A	GRCh38
NC_000023.10:g.49957484G>A , CM000685.1:g.49957484G>A	GRCh37
NC_000023.9:g.49844224G>A	NCBI36
NG_012552.1:g.13181C>T
NG_012552.2:g.13181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1880C>T MANE Select	ENSP00000351327.2:p.Ser627Leu
ENST00000358526.6:c.1880C>T	ENSP00000351327.2:p.Ser627Leu
ENST00000376064.7:c.1853C>T	ENSP00000365232.3:p.Ser618Leu
ENST00000481402.5:n.1992C>T
NM_003886.2:c.1880C>T	NP_003877.2:p.Ser627Leu
NM_139289.1:c.1853C>T	NP_647450.1:p.Ser618Leu
NM_003886.3:c.1880C>T MANE Select	NP_003877.2:p.Ser627Leu
NM_139289.2:c.1853C>T	NP_647450.1:p.Ser618Leu