Canonical Allele Identifier: CA136120291

Gene: GPLD1

Linked Data

• dbSNP Id: rs185972600
• gnomAD v2: 6-24491482-G-A
• gnomAD v3: 6-24491254-G-A
• gnomAD v4: 6-24491254-G-A
• MyVariant Identifiers: chr6:g.24491482G>A (hg19) ; chr6:g.24491254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24491254G>A , CM000668.2:g.24491254G>A	GRCh38
NC_000006.11:g.24491482G>A , CM000668.1:g.24491482G>A	GRCh37
NC_000006.10:g.24599461G>A	NCBI36
NG_008161.1:g.1286G>A
NG_029888.2:g.3369C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474784.5:n.240-1757C>T
ENST00000475417.1:n.234-1757C>T
XM_011514509.1:c.45-1757C>T	XP_011512811.1:n.45-1757C>T
XM_017010753.2:c.45-1757C>T	XP_016866242.1:n.45-1757C>T
XR_002956277.1:n.267-1757C>T