Canonical Allele Identifier: CA1908701593
Gene: DRGX HGNC NCBI

Linked Data

dbSNP Id: rs1849624050
gnomAD v3: 10-49368633-C-G
gnomAD v4: 10-49368633-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49368633C>G , CM000672.2:g.49368633C>G GRCh38
NC_000010.10:g.50576678C>G , CM000672.1:g.50576678C>G GRCh37
NC_000010.9:g.50246684C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000374139.8:c.527-2252G>C MANE Select ENSP00000363254.1:n.527-2252G>C
ENST00000374139.6:c.527-2252G>C ENSP00000363254.1:n.527-2252G>C
ENST00000434016.2:c.527-2252G>C ENSP00000401653.2:n.527-2252G>C
NM_001276451.1:c.527-2252G>C NP_001263380.1:n.527-2252G>C
XM_011540089.1:c.632-2252G>C XP_011538391.1:n.632-2252G>C
XM_011540090.1:c.212-2252G>C XP_011538392.1:n.212-2252G>C
XM_011540089.3:c.632-2252G>C XP_011538391.1:n.632-2252G>C
NM_001276451.2:c.527-2252G>C MANE Select NP_001263380.1:n.527-2252G>C
Search 100 bp 5'
Search 100 bp 3'