Canonical Allele Identifier: CA341748696

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220099G>T (hg19) ; chr1:g.114677478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677478G>T , CM000663.2:g.114677478G>T	GRCh38
NC_000001.10:g.115220099G>T , CM000663.1:g.115220099G>T	GRCh37
NC_000001.9:g.115021622G>T	NCBI36
NG_008012.1:g.23078C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1249C>A	ENSP00000358551.4:p.His417Asn
ENST00000520113.7:c.1261C>A MANE Select	ENSP00000430075.3:p.His421Asn
ENST00000637080.1:c.1044C>A	ENSP00000489753.1:n.1044C>A
ENST00000639077.1:n.926C>A
ENST00000369538.3:c.1348C>A	ENSP00000358551.3:p.His450Asn
ENST00000520113.6:c.1360C>A	ENSP00000430075.2:p.His454Asn
NM_000036.2:c.1360C>A	NP_000027.2:p.His454Asn
NM_001172626.1:c.1348C>A	NP_001166097.1:p.His450Asn
NM_000036.3:c.1261C>A MANE Select	NP_000027.3:p.His421Asn
NM_001172626.2:c.1249C>A	NP_001166097.2:p.His417Asn