Canonical Allele Identifier: CA206600060

Gene: DRGX

Linked Data

• dbSNP Id: rs80026704
• gnomAD v2: 10-50576672-C-T
• gnomAD v3: 10-49368627-C-T
• gnomAD v4: 10-49368627-C-T
• MyVariant Identifiers: chr10:g.50576672C>T (hg19) ; chr10:g.49368627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49368627C>T , CM000672.2:g.49368627C>T	GRCh38
NC_000010.10:g.50576672C>T , CM000672.1:g.50576672C>T	GRCh37
NC_000010.9:g.50246678C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374139.8:c.527-2246G>A MANE Select	ENSP00000363254.1:n.527-2246G>A
ENST00000374139.6:c.527-2246G>A	ENSP00000363254.1:n.527-2246G>A
ENST00000434016.2:c.527-2246G>A	ENSP00000401653.2:n.527-2246G>A
NM_001276451.1:c.527-2246G>A	NP_001263380.1:n.527-2246G>A
XM_011540089.1:c.632-2246G>A	XP_011538391.1:n.632-2246G>A
XM_011540090.1:c.212-2246G>A	XP_011538392.1:n.212-2246G>A
XM_011540089.3:c.632-2246G>A	XP_011538391.1:n.632-2246G>A
NM_001276451.2:c.527-2246G>A MANE Select	NP_001263380.1:n.527-2246G>A