Canonical Allele Identifier: CA174784
Gene: DGCR6L HGNC NCBI

Linked Data

ClinVar Variation Id: 161788
ClinVar RCV Id: RCV000149324
dbSNP Id: rs193920891
gnomAD v4: 22-20314730-G-A
MyVariant Identifiers: chr22:g.20302253G>A (hg19) chr22:g.20314730G>A (hg38)
PubMed: PMID:23265383
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20314730G>A , CM000684.2:g.20314730G>A GRCh38
NC_000022.10:g.20302253G>A , CM000684.1:g.20302253G>A GRCh37
NC_000022.9:g.18682253G>A NCBI36
NG_046957.1:g.10376C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248879.8:c.608C>T MANE Select ENSP00000248879.2:p.Pro203Leu
ENST00000248879.7:c.608C>T ENSP00000248879.2:p.Pro203Leu
ENST00000405465.3:c.494C>T ENSP00000386052.3:p.Pro165Leu
ENST00000443409.1:c.*213C>T ENSP00000403341.1:n.*213C>T
NM_033257.3:c.608C>T NP_150282.2:p.Pro203Leu
XM_011530470.1:c.*109C>T XP_011528772.1:n.*109C>T
NM_033257.4:c.608C>T MANE Select NP_150282.2:p.Pro203Leu
Search 100 bp 5'
Search 100 bp 3'