Canonical Allele Identifier: CA565924545
Gene: GPLD1 HGNC NCBI

Linked Data

dbSNP Id: rs6911965
gnomAD v2: 6-24480295-T-A
gnomAD v4: 6-24480067-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24480067T>A , CM000668.2:g.24480067T>A GRCh38
NC_000006.11:g.24480295T>A , CM000668.1:g.24480295T>A GRCh37
NC_000006.10:g.24588274T>A NCBI36
NG_029888.2:g.14556A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000230036.2:c.154-108A>T MANE Select ENSP00000230036.1:n.154-108A>T
ENST00000230036.1:c.154-108A>T ENSP00000230036.1:n.154-108A>T
ENST00000378243.8:n.214-108A>T
ENST00000474784.5:n.379-108A>T
ENST00000475417.1:n.317-108A>T
ENST00000486892.5:n.166-108A>T
NM_001503.3:c.154-108A>T NP_001494.2:n.154-108A>T
XM_005249018.1:c.-232-108A>T XP_005249075.1:n.-232-108A>T
XM_011514509.1:c.184-108A>T XP_011512811.1:n.184-108A>T
XM_017010753.2:c.184-108A>T XP_016866242.1:n.184-108A>T
XM_024446403.1:c.-232-108A>T XP_024302171.1:n.-232-108A>T
XR_002956277.1:n.406-108A>T
NM_001503.4:c.154-108A>T MANE Select NP_001494.2:n.154-108A>T