Canonical Allele Identifier: CA341749137

Gene: AMPD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677999A>G , CM000663.2:g.114677999A>G	GRCh38
NC_000001.10:g.115220620A>G , CM000663.1:g.115220620A>G	GRCh37
NC_000001.9:g.115022143A>G	NCBI36
NG_008012.1:g.22557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1123T>C	ENSP00000358551.4:p.Tyr375His
ENST00000520113.7:c.1135T>C MANE Select	ENSP00000430075.3:p.Tyr379His
ENST00000637080.1:c.918T>C	ENSP00000489753.1:n.918T>C
ENST00000639077.1:n.800T>C
ENST00000369538.3:c.1222T>C	ENSP00000358551.3:p.Tyr408His
ENST00000520113.6:c.1234T>C	ENSP00000430075.2:p.Tyr412His
NM_000036.2:c.1234T>C	NP_000027.2:p.Tyr412His
NM_001172626.1:c.1222T>C	NP_001166097.1:p.Tyr408His
NM_000036.3:c.1135T>C MANE Select	NP_000027.3:p.Tyr379His
NM_001172626.2:c.1123T>C	NP_001166097.2:p.Tyr375His