Canonical Allele Identifier: CA10633253

Gene: AMPD3

Linked Data

• ClinVar Variation Id: 302163
• ClinVar RCV Id: RCV000275085
• dbSNP Id: rs555477655
• MyVariant Identifiers: chr11:g.10514937G>T (hg19) ; chr11:g.10493390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10493390G>T , CM000673.2:g.10493390G>T	GRCh38
NC_000011.9:g.10514937G>T , CM000673.1:g.10514937G>T	GRCh37
NC_000011.8:g.10471513G>T	NCBI36
NG_012041.1:g.47714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396553.7:c.981G>T MANE Select	ENSP00000379801.2:p.Lys327Asn
ENST00000396553.6:c.981G>T	ENSP00000379801.2:p.Lys327Asn
ENST00000396554.7:c.1008G>T	ENSP00000379802.3:p.Lys336Asn
ENST00000444303.6:c.504G>T	ENSP00000396000.2:p.Lys168Asn
ENST00000528723.5:c.1002G>T	ENSP00000436987.1:p.Lys334Asn
ENST00000529507.5:c.981G>T	ENSP00000431648.1:p.Lys327Asn
ENST00000529834.5:c.981G>T	ENSP00000435382.1:p.Lys327Asn
ENST00000533116.1:c.24G>T	ENSP00000433351.1:p.Lys8Asn
ENST00000534047.5:c.*283G>T	ENSP00000433937.1:n.*283G>T
NM_000480.2:c.1008G>T	NP_000471.1:p.Lys336Asn
NM_001025389.1:c.981G>T	NP_001020560.1:p.Lys327Asn
NM_001025390.1:c.1002G>T	NP_001020561.1:p.Lys334Asn
NM_001172430.1:c.981G>T	NP_001165901.1:p.Lys327Asn
NM_001172431.1:c.504G>T	NP_001165902.1:p.Lys168Asn
NM_000480.3:c.1008G>T	NP_000471.1:p.Lys336Asn
NM_001025389.2:c.981G>T MANE Select	NP_001020560.1:p.Lys327Asn
NM_001025390.2:c.1002G>T	NP_001020561.1:p.Lys334Asn
NM_001172431.2:c.504G>T	NP_001165902.1:p.Lys168Asn