Canonical Allele Identifier: CA1190276321

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677499G= , CM000663.2:g.114677499G=	GRCh38
NC_000001.10:g.115220120G= , CM000663.1:g.115220120G=	GRCh37
NC_000001.9:g.115021643G=	NCBI36
NG_008012.1:g.23057C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1228C=	ENSP00000358551.4:p.Leu410=
ENST00000520113.7:c.1240C= MANE Select	ENSP00000430075.3:p.Leu414=
ENST00000637080.1:c.1023C=	ENSP00000489753.1:n.1023C=
ENST00000639077.1:n.905C=
ENST00000369538.3:c.1327C=	ENSP00000358551.3:p.Leu443=
ENST00000520113.6:c.1339C=	ENSP00000430075.2:p.Leu447=
NM_000036.2:c.1339C=	NP_000027.2:p.Leu447=
NM_001172626.1:c.1327C=	NP_001166097.1:p.Leu443=
NM_000036.3:c.1240C= MANE Select	NP_000027.3:p.Leu414=
NM_001172626.2:c.1228C=	NP_001166097.2:p.Leu410=