Canonical Allele Identifier: CA413188096

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192579-C-A
• MyVariant Identifiers: chrX:g.49957230C>A (hg19) ; chrX:g.50192579C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192579C>A , CM000685.2:g.50192579C>A	GRCh38
NC_000023.10:g.49957230C>A , CM000685.1:g.49957230C>A	GRCh37
NC_000023.9:g.49843970C>A	NCBI36
NG_012552.1:g.13435G>T
NG_012552.2:g.13435G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2134G>T MANE Select	ENSP00000351327.2:p.Ala712Ser
ENST00000358526.6:c.2134G>T	ENSP00000351327.2:p.Ala712Ser
ENST00000376064.7:c.2107G>T	ENSP00000365232.3:p.Ala703Ser
ENST00000481402.5:n.2246G>T
NM_003886.2:c.2134G>T	NP_003877.2:p.Ala712Ser
NM_139289.1:c.2107G>T	NP_647450.1:p.Ala703Ser
NM_003886.3:c.2134G>T MANE Select	NP_003877.2:p.Ala712Ser
NM_139289.2:c.2107G>T	NP_647450.1:p.Ala703Ser