Canonical Allele Identifier: CA413187141

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192311-A-G
• MyVariant Identifiers: chrX:g.49956962A>G (hg19) ; chrX:g.50192311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192311A>G , CM000685.2:g.50192311A>G	GRCh38
NC_000023.10:g.49956962A>G , CM000685.1:g.49956962A>G	GRCh37
NC_000023.9:g.49843702A>G	NCBI36
NG_012552.1:g.13703T>C
NG_012552.2:g.13703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2402T>C MANE Select	ENSP00000351327.2:p.Leu801Pro
ENST00000358526.6:c.2402T>C	ENSP00000351327.2:p.Leu801Pro
ENST00000376064.7:c.2375T>C	ENSP00000365232.3:p.Leu792Pro
ENST00000481402.5:n.2514T>C
NM_003886.2:c.2402T>C	NP_003877.2:p.Leu801Pro
NM_139289.1:c.2375T>C	NP_647450.1:p.Leu792Pro
NM_003886.3:c.2402T>C MANE Select	NP_003877.2:p.Leu801Pro
NM_139289.2:c.2375T>C	NP_647450.1:p.Leu792Pro