Canonical Allele Identifier: CA206600055

Gene: DRGX

Linked Data

• dbSNP Id: rs547127132
• gnomAD v2: 10-50576644-C-A
• gnomAD v3: 10-49368599-C-A
• gnomAD v4: 10-49368599-C-A
• MyVariant Identifiers: chr10:g.50576644C>A (hg19) ; chr10:g.49368599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49368599C>A , CM000672.2:g.49368599C>A	GRCh38
NC_000010.10:g.50576644C>A , CM000672.1:g.50576644C>A	GRCh37
NC_000010.9:g.50246650C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374139.8:c.527-2218G>T MANE Select	ENSP00000363254.1:n.527-2218G>T
ENST00000374139.6:c.527-2218G>T	ENSP00000363254.1:n.527-2218G>T
ENST00000434016.2:c.527-2218G>T	ENSP00000401653.2:n.527-2218G>T
NM_001276451.1:c.527-2218G>T	NP_001263380.1:n.527-2218G>T
XM_011540089.1:c.632-2218G>T	XP_011538391.1:n.632-2218G>T
XM_011540090.1:c.212-2218G>T	XP_011538392.1:n.212-2218G>T
XM_011540089.3:c.632-2218G>T	XP_011538391.1:n.632-2218G>T
NM_001276451.2:c.527-2218G>T MANE Select	NP_001263380.1:n.527-2218G>T