Canonical Allele Identifier: CA413187414

Gene: AKAP4

Linked Data

• MyVariant Identifiers: chrX:g.49957020C>A (hg19) ; chrX:g.50192369C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192369C>A , CM000685.2:g.50192369C>A	GRCh38
NC_000023.10:g.49957020C>A , CM000685.1:g.49957020C>A	GRCh37
NC_000023.9:g.49843760C>A	NCBI36
NG_012552.1:g.13645G>T
NG_012552.2:g.13645G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2344G>T MANE Select	ENSP00000351327.2:p.Ala782Ser
ENST00000358526.6:c.2344G>T	ENSP00000351327.2:p.Ala782Ser
ENST00000376064.7:c.2317G>T	ENSP00000365232.3:p.Ala773Ser
ENST00000481402.5:n.2456G>T
NM_003886.2:c.2344G>T	NP_003877.2:p.Ala782Ser
NM_139289.1:c.2317G>T	NP_647450.1:p.Ala773Ser
NM_003886.3:c.2344G>T MANE Select	NP_003877.2:p.Ala782Ser
NM_139289.2:c.2317G>T	NP_647450.1:p.Ala773Ser