Canonical Allele Identifier: CA2678121431
Gene: AGPAT1 HGNC NCBI

Linked Data

gnomAD v4: 6-32177463-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32177463G>A , CM000668.2:g.32177463G>A GRCh38
NC_000006.11:g.32145240G>A , CM000668.1:g.32145240G>A GRCh37
NC_000006.10:g.32253218G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336984.6:c.-10+538C>T ENSP00000337463.6:n.-10+538C>T
ENST00000395497.5:c.-10+81C>T ENSP00000378875.1:n.-10+81C>T
NM_032741.4:c.-10+538C>T NP_116130.2:n.-10+538C>T
XM_011514234.1:c.-10+81C>T XP_011512536.1:n.-10+81C>T
XM_005248806.2:c.-239C>T XP_005248863.1:n.-239C>T
NM_032741.5:c.-10+538C>T NP_116130.2:n.-10+538C>T