Canonical Allele Identifier: CA412459000

Gene: AP1S2

Linked Data

• MyVariant Identifiers: chrX:g.15864062A>C (hg19) ; chrX:g.15845939A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15845939A>C , CM000685.2:g.15845939A>C	GRCh38
NC_000023.10:g.15864062A>C , CM000685.1:g.15864062A>C	GRCh37
NC_000023.9:g.15773983A>C	NCBI36
NG_009274.1:g.14039T>G
NG_009274.2:g.14039T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.252T>G	ENSP00000389474.2:p.His84Gln
ENST00000479184.2:c.252T>G	ENSP00000500850.1:p.His84Gln
ENST00000545766.7:c.120T>G	ENSP00000444957.3:p.His40Gln
ENST00000671830.1:c.252T>G	ENSP00000500483.1:p.His84Gln
ENST00000672063.1:c.252T>G	ENSP00000500737.1:p.His84Gln
ENST00000672987.1:c.252T>G MANE Select	ENSP00000500695.1:p.His84Gln
ENST00000673445.1:c.252T>G	ENSP00000500798.1:p.His84Gln
ENST00000673591.1:c.252T>G	ENSP00000500066.1:p.His84Gln
ENST00000329235.6:c.252T>G	ENSP00000328789.2:p.His84Gln
ENST00000380291.5:c.252T>G	ENSP00000369645.1:p.His84Gln
ENST00000450644.1:c.230T>G
ENST00000452376.5:c.241T>G
ENST00000545766.5:c.252T>G	ENSP00000444957.2:p.His84Gln
NM_001272071.1:c.252T>G	NP_001259000.1:p.His84Gln
NM_003916.4:c.252T>G	NP_003907.3:p.His84Gln
XM_005274614.3:c.378T>G	XP_005274671.1:p.His126Gln
XM_011545599.1:c.378T>G	XP_011543901.1:p.His126Gln
XR_247289.2:n.531T>G
XR_247290.3:n.466T>G
XM_017029925.1:c.378T>G	XP_016885414.1:p.His126Gln
XM_017029926.2:c.378T>G	XP_016885415.1:p.His126Gln
XR_001755741.2:n.531T>G
XR_002958809.1:n.302T>G
XR_247289.3:n.531T>G
XR_247290.4:n.531T>G
NM_001272071.2:c.252T>G MANE Select	NP_001259000.1:p.His84Gln
NM_001368994.1:c.252T>G	NP_001355923.1:p.His84Gln
NM_001369007.1:c.252T>G	NP_001355936.1:p.His84Gln
NM_001369008.1:c.252T>G	NP_001355937.1:p.His84Gln
NM_003916.5:c.252T>G	NP_003907.3:p.His84Gln
NR_160932.1:n.378T>G
NR_160933.1:n.378T>G