Canonical Allele Identifier: CA136120290

Gene: GPLD1

Linked Data

• dbSNP Id: rs1016583856
• gnomAD v2: 6-24491481-C-T
• gnomAD v3: 6-24491253-C-T
• gnomAD v4: 6-24491253-C-T
• MyVariant Identifiers: chr6:g.24491481C>T (hg19) ; chr6:g.24491253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24491253C>T , CM000668.2:g.24491253C>T	GRCh38
NC_000006.11:g.24491481C>T , CM000668.1:g.24491481C>T	GRCh37
NC_000006.10:g.24599460C>T	NCBI36
NG_008161.1:g.1285C>T
NG_029888.2:g.3370G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000474784.5:n.240-1756G>A
ENST00000475417.1:n.234-1756G>A
XM_011514509.1:c.45-1756G>A	XP_011512811.1:n.45-1756G>A
XM_017010753.2:c.45-1756G>A	XP_016866242.1:n.45-1756G>A
XR_002956277.1:n.267-1756G>A