Canonical Allele Identifier: CA136908643
Gene: AGPAT1 HGNC NCBI

Linked Data

dbSNP Id: rs913238176
gnomAD v2: 6-32145283-G-A
gnomAD v3: 6-32177506-G-A
gnomAD v4: 6-32177506-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32177506G>A , CM000668.2:g.32177506G>A GRCh38
NC_000006.11:g.32145283G>A , CM000668.1:g.32145283G>A GRCh37
NC_000006.10:g.32253261G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336984.6:c.-10+495C>T ENSP00000337463.6:n.-10+495C>T
ENST00000395497.5:c.-10+38C>T ENSP00000378875.1:n.-10+38C>T
NM_032741.4:c.-10+495C>T NP_116130.2:n.-10+495C>T
XM_011514234.1:c.-10+38C>T XP_011512536.1:n.-10+38C>T
XM_005248806.2:c.-282C>T XP_005248863.1:n.-282C>T
NM_032741.5:c.-10+495C>T NP_116130.2:n.-10+495C>T