Canonical Allele Identifier: CA565925399

Gene: GPLD1

Linked Data

• dbSNP Id: rs1298746269
• gnomAD v2: 6-24491422-T-C
• gnomAD v3: 6-24491194-T-C
• gnomAD v4: 6-24491194-T-C
• MyVariant Identifiers: chr6:g.24491422T>C (hg19) ; chr6:g.24491194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24491194T>C , CM000668.2:g.24491194T>C	GRCh38
NC_000006.11:g.24491422T>C , CM000668.1:g.24491422T>C	GRCh37
NC_000006.10:g.24599401T>C	NCBI36
NG_008161.1:g.1226T>C
NG_029888.2:g.3429A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474784.5:n.240-1697A>G
ENST00000475417.1:n.234-1697A>G
XM_011514509.1:c.45-1697A>G	XP_011512811.1:n.45-1697A>G
XM_017010753.2:c.45-1697A>G	XP_016866242.1:n.45-1697A>G
XR_002956277.1:n.267-1697A>G