Canonical Allele Identifier: CA2036909485

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307496_53307497delinsTG , CM000674.2:g.53307496_53307497delinsTG	GRCh38
NC_000012.11:g.53701280_53701281delinsTG , CM000674.1:g.53701280_53701281delinsTG	GRCh37
NC_000012.10:g.51987547_51987548delinsTG	NCBI36
NG_016775.1:g.19132_19133delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1633_1634delinsCA MANE Select	ENSP00000209873.4:p.His545=
ENST00000547757.2:c.*551_*552delinsCA	ENSP00000448020.2:n.*551_*552delinsCA
ENST00000548931.6:c.1068_1069delinsCA	ENSP00000457518.1:p.Pro356=
ENST00000549450.6:n.1567_1568delinsCA
ENST00000209873.8:c.1633_1634delinsCA	ENSP00000209873.4:p.His545=
ENST00000394384.7:c.1534_1535delinsCA	ENSP00000377908.3:p.His512=
ENST00000548931.5:c.1068_1069delinsCA	ENSP00000457518.1:p.Pro356=
ENST00000550286.5:c.1261_1262delinsCA	ENSP00000446885.1:p.His421=
ENST00000552876.5:n.1976_1977delinsCA
NM_001173466.1:c.1534_1535delinsCA	NP_001166937.1:p.His512=
NM_015665.5:c.1633_1634delinsCA	NP_056480.1:p.His545=
XM_006719617.2:c.1648_1649delinsCA	XP_006719680.1:p.His550=
XM_011538777.1:c.1690_1691delinsCA	XP_011537079.1:p.His564=
XM_011538778.1:c.1675_1676delinsCA	XP_011537080.1:p.His559=
XM_011538779.1:c.1591_1592delinsCA	XP_011537081.1:p.His531=
XM_011538780.1:c.1576_1577delinsCA	XP_011537082.1:p.His526=
XM_011538781.1:c.1024_1025delinsCA	XP_011537083.1:p.His342=
XM_011538778.2:c.1675_1676delinsCA	XP_011537080.1:p.His559=
XM_011538780.2:c.1576_1577delinsCA	XP_011537082.1:p.His526=
XR_001748875.2:n.1690_1691delinsCA
NM_015665.6:c.1633_1634delinsCA MANE Select	NP_056480.1:p.His545=
NM_001173466.2:c.1534_1535delinsCA	NP_001166937.1:p.His512=