Canonical Allele Identifier: CA136120276
Gene: GPLD1 HGNC NCBI

Linked Data

dbSNP Id: rs762392180
gnomAD v2: 6-24491461-T-C
gnomAD v3: 6-24491233-T-C
gnomAD v4: 6-24491233-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24491233T>C , CM000668.2:g.24491233T>C GRCh38
NC_000006.11:g.24491461T>C , CM000668.1:g.24491461T>C GRCh37
NC_000006.10:g.24599440T>C NCBI36
NG_008161.1:g.1265T>C
NG_029888.2:g.3390A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474784.5:n.240-1736A>G
ENST00000475417.1:n.234-1736A>G
XM_011514509.1:c.45-1736A>G XP_011512811.1:n.45-1736A>G
XM_017010753.2:c.45-1736A>G XP_016866242.1:n.45-1736A>G
XR_002956277.1:n.267-1736A>G