Canonical Allele Identifier: CA136908876
Gene: AGPAT1 HGNC NCBI

Linked Data

dbSNP Id: rs987241890
gnomAD v2: 6-32145722-C-T
gnomAD v3: 6-32177945-C-T
gnomAD v4: 6-32177945-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32177945C>T , CM000668.2:g.32177945C>T GRCh38
NC_000006.11:g.32145722C>T , CM000668.1:g.32145722C>T GRCh37
NC_000006.10:g.32253700C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336984.6:c.-10+56G>A ENSP00000337463.6:n.-10+56G>A
NM_032741.4:c.-10+56G>A NP_116130.2:n.-10+56G>A
NM_032741.5:c.-10+56G>A NP_116130.2:n.-10+56G>A