Canonical Allele Identifier: CA516679733

Gene: AKAP4

Linked Data

• gnomAD v4: X-50193045-C-A
• MyVariant Identifiers: chrX:g.49957696C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193045C>A , CM000685.2:g.50193045C>A	GRCh38
NC_000023.10:g.49957696C>A , CM000685.1:g.49957696C>A	GRCh37
NC_000023.9:g.49844436C>A	NCBI36
NG_012552.1:g.12969G>T
NG_012552.2:g.12969G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1668G>T MANE Select	ENSP00000351327.2:p.Leu556=
ENST00000358526.6:c.1668G>T	ENSP00000351327.2:p.Leu556=
ENST00000376064.7:c.1641G>T	ENSP00000365232.3:p.Leu547=
ENST00000448865.5:c.542-23G>T	ENSP00000402403.1:n.542-23G>T
ENST00000481402.5:n.1780G>T
NM_003886.2:c.1668G>T	NP_003877.2:p.Leu556=
NM_139289.1:c.1641G>T	NP_647450.1:p.Leu547=
NM_003886.3:c.1668G>T MANE Select	NP_003877.2:p.Leu556=
NM_139289.2:c.1641G>T	NP_647450.1:p.Leu547=