Canonical Allele Identifier: CA2647253939

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684471-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684471C>A , CM000663.2:g.114684471C>A	GRCh38
NC_000001.10:g.115227092C>A , CM000663.1:g.115227092C>A	GRCh37
NC_000001.9:g.115028615C>A	NCBI36
NG_008012.1:g.16085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-107G>T	ENSP00000358551.4:n.370-107G>T
ENST00000520113.7:c.382-107G>T MANE Select	ENSP00000430075.3:n.382-107G>T
ENST00000637080.1:c.385-107G>T	ENSP00000489753.1:n.385-107G>T
ENST00000639077.1:n.19G>T
ENST00000369538.3:c.469-107G>T	ENSP00000358551.3:n.469-107G>T
ENST00000485564.3:n.256-107G>T
ENST00000520113.6:c.481-107G>T	ENSP00000430075.2:n.481-107G>T
NM_000036.2:c.481-107G>T	NP_000027.2:n.481-107G>T
NM_001172626.1:c.469-107G>T	NP_001166097.1:n.469-107G>T
NM_000036.3:c.382-107G>T MANE Select	NP_000027.3:n.382-107G>T
NM_001172626.2:c.370-107G>T	NP_001166097.2:n.370-107G>T