Canonical Allele Identifier: CA2678121441
Gene: AGPAT1 HGNC NCBI

Linked Data

gnomAD v4: 6-32177496-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32177496C>T , CM000668.2:g.32177496C>T GRCh38
NC_000006.11:g.32145273C>T , CM000668.1:g.32145273C>T GRCh37
NC_000006.10:g.32253251C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336984.6:c.-10+505G>A ENSP00000337463.6:n.-10+505G>A
ENST00000395497.5:c.-10+48G>A ENSP00000378875.1:n.-10+48G>A
NM_032741.4:c.-10+505G>A NP_116130.2:n.-10+505G>A
XM_011514234.1:c.-10+48G>A XP_011512536.1:n.-10+48G>A
XM_005248806.2:c.-272G>A XP_005248863.1:n.-272G>A
NM_032741.5:c.-10+505G>A NP_116130.2:n.-10+505G>A