Canonical Allele Identifier: CA2678121445
Gene: AGPAT1 HGNC NCBI

Linked Data

gnomAD v4: 6-32177504-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32177504A>G , CM000668.2:g.32177504A>G GRCh38
NC_000006.11:g.32145281A>G , CM000668.1:g.32145281A>G GRCh37
NC_000006.10:g.32253259A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336984.6:c.-10+497T>C ENSP00000337463.6:n.-10+497T>C
ENST00000395497.5:c.-10+40T>C ENSP00000378875.1:n.-10+40T>C
NM_032741.4:c.-10+497T>C NP_116130.2:n.-10+497T>C
XM_011514234.1:c.-10+40T>C XP_011512536.1:n.-10+40T>C
XM_005248806.2:c.-280T>C XP_005248863.1:n.-280T>C
NM_032741.5:c.-10+497T>C NP_116130.2:n.-10+497T>C