Canonical Allele Identifier: CA1020608

Gene: AMPD1

Linked Data

• dbSNP Id: rs368862651
• ExAC: 1:115236045 T / A
• gnomAD v2: 1-115236045-T-A
• gnomAD v3: 1-114693424-T-A
• gnomAD v4: 1-114693424-T-A
• MyVariant Identifiers: chr1:g.115236045T>A (hg19) ; chr1:g.114693424T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693424T>A , CM000663.2:g.114693424T>A	GRCh38
NC_000001.10:g.115236045T>A , CM000663.1:g.115236045T>A	GRCh37
NC_000001.9:g.115037568T>A	NCBI36
NG_008012.1:g.7132A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.22+2026A>T	ENSP00000358551.4:n.22+2026A>T
ENST00000520113.7:c.34+12A>T MANE Select	ENSP00000430075.3:n.34+12A>T
ENST00000637080.1:c.37+2013A>T	ENSP00000489753.1:n.37+2013A>T
ENST00000369538.3:c.121+2026A>T	ENSP00000358551.3:n.121+2026A>T
ENST00000520113.6:c.133+12A>T	ENSP00000430075.2:n.133+12A>T
NM_000036.2:c.133+12A>T	NP_000027.2:n.133+12A>T
NM_001172626.1:c.121+2026A>T	NP_001166097.1:n.121+2026A>T
NM_000036.3:c.34+12A>T MANE Select	NP_000027.3:n.34+12A>T
NM_001172626.2:c.22+2026A>T	NP_001166097.2:n.22+2026A>T