Canonical Allele Identifier: CA341743850

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673691T>C , CM000663.2:g.114673691T>C	GRCh38
NC_000001.10:g.115216312T>C , CM000663.1:g.115216312T>C	GRCh37
NC_000001.9:g.115017835T>C	NCBI36
NG_008012.1:g.26865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.2021A>G	ENSP00000358551.4:p.Asp674Gly
ENST00000520113.7:c.2033A>G MANE Select	ENSP00000430075.3:p.Asp678Gly
ENST00000637080.1:c.1816A>G	ENSP00000489753.1:n.1816A>G
ENST00000638214.1:n.1146A>G
ENST00000639077.1:n.1555A>G
ENST00000639274.1:n.663A>G
ENST00000369538.3:c.2120A>G	ENSP00000358551.3:p.Asp707Gly
ENST00000520113.6:c.2132A>G	ENSP00000430075.2:p.Asp711Gly
NM_000036.2:c.2132A>G	NP_000027.2:p.Asp711Gly
NM_001172626.1:c.2120A>G	NP_001166097.1:p.Asp707Gly
NM_000036.3:c.2033A>G MANE Select	NP_000027.3:p.Asp678Gly
NM_001172626.2:c.2021A>G	NP_001166097.2:p.Asp674Gly