Canonical Allele Identifier: CA136120217
Gene: GPLD1 HGNC NCBI

Linked Data

dbSNP Id: rs373121977
gnomAD v2: 6-24491329-G-T
gnomAD v3: 6-24491101-G-T
gnomAD v4: 6-24491101-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24491101G>T , CM000668.2:g.24491101G>T GRCh38
NC_000006.11:g.24491329G>T , CM000668.1:g.24491329G>T GRCh37
NC_000006.10:g.24599308G>T NCBI36
NG_008161.1:g.1133G>T
NG_029888.2:g.3522C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000474784.5:n.240-1604C>A
ENST00000475417.1:n.234-1604C>A
XM_011514509.1:c.45-1604C>A XP_011512811.1:n.45-1604C>A
XM_017010753.2:c.45-1604C>A XP_016866242.1:n.45-1604C>A
XR_002956277.1:n.267-1604C>A