Canonical Allele Identifier: CA7845271

Gene: AMDHD2 CEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2530675C>G , CM000678.2:g.2530675C>G	GRCh38
NC_000016.9:g.2580676C>G , CM000678.1:g.2580676C>G	GRCh37
NC_000016.8:g.2520677C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001048212.3:c.399G>C (CEMP1) MANE Select	NP_001041677.1:p.Trp133Cys
NM_001330449.2:c.*1112C>G (AMDHD2) MANE Select	NP_001317378.1:n.*1112C>G
ENST00000293971.11:c.*1112C>G (AMDHD2) MANE Select	ENSP00000293971.6:n.*1112C>G
ENST00000567119.1:c.399G>C (CEMP1) MANE Select	ENSP00000457380.1:p.Trp133Cys
NM_001145815.1:c.1701C>G (AMDHD2)	NP_001139287.1:p.Val567=
NM_001145815.2:c.1701C>G (AMDHD2)	NP_001139287.1:p.Val567=
NM_015944.4:c.*1112C>G (AMDHD2)	NP_057028.2:n.*1112C>G
ENST00000302956.8:c.*1112C>G (AMDHD2)	ENSP00000307481.4:n.*1112C>G
ENST00000413459.7:c.1701C>G (AMDHD2)	ENSP00000391596.3:p.Val567=
ENST00000565480.1:c.142+257G>C (CEMP1)	ENSP00000455479.1:n.142+257G>C
ENST00000565570.1:n.1097C>G (AMDHD2)
ENST00000648227.1:c.*1112C>G (AMDHD2)	ENSP00000498048.1:n.*1112C>G
XM_017023263.2:c.*1112C>G (AMDHD2)	XP_016878752.1:n.*1112C>G
XM_017023264.2:c.*1112C>G (AMDHD2)	XP_016878753.1:n.*1112C>G
XM_017023265.2:c.*1112C>G (AMDHD2)	XP_016878754.1:n.*1112C>G
XM_017023266.2:c.*1112C>G (AMDHD2)	XP_016878755.1:n.*1112C>G
XM_017023267.2:c.*1112C>G (AMDHD2)	XP_016878756.1:n.*1112C>G