Canonical Allele Identifier: CA10611976
Gene: AGPS HGNC NCBI
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177543354T>C , CM000664.2:g.177543354T>C GRCh38
NC_000002.11:g.178408082T>C , CM000664.1:g.178408082T>C GRCh37
NC_000002.10:g.178116328T>C NCBI36
NG_008968.1:g.155612T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264167.11:c.*5159T>C MANE Select ENSP00000264167.4:n.*5159T>C
ENST00000637633.2:c.1856-15398T>C ENSP00000490844.2:n.1856-15398T>C
ENST00000642466.2:c.1856-8009T>C ENSP00000494433.2:n.1856-8009T>C
ENST00000679421.1:n.8365T>C
ENST00000679459.1:c.1855+19549T>C ENSP00000506137.1:n.1855+19549T>C
ENST00000679478.1:c.*5159T>C ENSP00000506484.1:n.*5159T>C
ENST00000679994.1:c.*5159T>C ENSP00000504957.1:n.*5159T>C
ENST00000680028.1:n.8500T>C
ENST00000680155.1:c.*5159T>C ENSP00000505333.1:n.*5159T>C
ENST00000680893.1:c.*6384T>C ENSP00000505929.1:n.*6384T>C
ENST00000681032.1:c.*6514T>C ENSP00000505205.1:n.*6514T>C
ENST00000681565.1:c.*6269T>C ENSP00000505620.1:n.*6269T>C
ENST00000681752.1:c.*6906T>C ENSP00000504994.1:n.*6906T>C
ENST00000681891.1:n.10771T>C
ENST00000264167.8:c.*5159T>C ENSP00000264167.4:n.*5159T>C
NM_003659.3:c.*5159T>C NP_003650.1:n.*5159T>C
XM_011512041.1:c.*5159T>C XP_011510343.1:n.*5159T>C
XM_011512042.1:c.*5159T>C XP_011510344.1:n.*5159T>C
XM_011512043.1:c.*5159T>C XP_011510345.1:n.*5159T>C
XM_011512041.2:c.*5159T>C XP_011510343.1:n.*5159T>C
XM_011512043.2:c.*5159T>C XP_011510345.1:n.*5159T>C
XR_001739007.2:n.7044T>C
NM_003659.4:c.*5159T>C MANE Select NP_003650.1:n.*5159T>C