Canonical Allele Identifier: CA341749996

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222211T>G (hg19) ; chr1:g.114679590T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679590T>G , CM000663.2:g.114679590T>G	GRCh38
NC_000001.10:g.115222211T>G , CM000663.1:g.115222211T>G	GRCh37
NC_000001.9:g.115023734T>G	NCBI36
NG_008012.1:g.20966A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.874A>C	ENSP00000358551.4:p.Asn292His
ENST00000520113.7:c.886A>C MANE Select	ENSP00000430075.3:p.Asn296His
ENST00000637080.1:c.669A>C	ENSP00000489753.1:n.669A>C
ENST00000639077.1:n.551A>C
ENST00000369538.3:c.973A>C	ENSP00000358551.3:p.Asn325His
ENST00000520113.6:c.985A>C	ENSP00000430075.2:p.Asn329His
NM_000036.2:c.985A>C	NP_000027.2:p.Asn329His
NM_001172626.1:c.973A>C	NP_001166097.1:p.Asn325His
NM_000036.3:c.886A>C MANE Select	NP_000027.3:p.Asn296His
NM_001172626.2:c.874A>C	NP_001166097.2:p.Asn292His