Canonical Allele Identifier: CA2678121729
Gene: AGPAT1 HGNC NCBI

Linked Data

gnomAD v4: 6-32177959-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32177959G>A , CM000668.2:g.32177959G>A GRCh38
NC_000006.11:g.32145736G>A , CM000668.1:g.32145736G>A GRCh37
NC_000006.10:g.32253714G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336984.6:c.-10+42C>T ENSP00000337463.6:n.-10+42C>T
NM_032741.4:c.-10+42C>T NP_116130.2:n.-10+42C>T
NM_032741.5:c.-10+42C>T NP_116130.2:n.-10+42C>T