Canonical Allele Identifier: CA136908634
Gene: AGPAT1 HGNC NCBI

Linked Data

dbSNP Id: rs761288533
gnomAD v2: 6-32145265-G-C
gnomAD v3: 6-32177488-G-C
gnomAD v4: 6-32177488-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32177488G>C , CM000668.2:g.32177488G>C GRCh38
NC_000006.11:g.32145265G>C , CM000668.1:g.32145265G>C GRCh37
NC_000006.10:g.32253243G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336984.6:c.-10+513C>G ENSP00000337463.6:n.-10+513C>G
ENST00000395497.5:c.-10+56C>G ENSP00000378875.1:n.-10+56C>G
NM_032741.4:c.-10+513C>G NP_116130.2:n.-10+513C>G
XM_011514234.1:c.-10+56C>G XP_011512536.1:n.-10+56C>G
XM_005248806.2:c.-264C>G XP_005248863.1:n.-264C>G
NM_032741.5:c.-10+513C>G NP_116130.2:n.-10+513C>G