Canonical Allele Identifier: CA413189360
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs1445956947
gnomAD v2: X-49957512-G-A
gnomAD v3: X-50192861-G-A
gnomAD v4: X-50192861-G-A
MyVariant Identifiers: chrX:g.49957512G>A (hg19) chrX:g.50192861G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192861G>A , CM000685.2:g.50192861G>A GRCh38
NC_000023.10:g.49957512G>A , CM000685.1:g.49957512G>A GRCh37
NC_000023.9:g.49844252G>A NCBI36
NG_012552.1:g.13153C>T
NG_012552.2:g.13153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1852C>T MANE Select ENSP00000351327.2:p.His618Tyr
ENST00000358526.6:c.1852C>T ENSP00000351327.2:p.His618Tyr
ENST00000376064.7:c.1825C>T ENSP00000365232.3:p.His609Tyr
ENST00000481402.5:n.1964C>T
NM_003886.2:c.1852C>T NP_003877.2:p.His618Tyr
NM_139289.1:c.1825C>T NP_647450.1:p.His609Tyr
NM_003886.3:c.1852C>T MANE Select NP_003877.2:p.His618Tyr
NM_139289.2:c.1825C>T NP_647450.1:p.His609Tyr
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