Canonical Allele Identifier: CA1561985
Gene: DRC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618878
ClinVar RCV Id: RCV002086312
dbSNP Id: rs762632039
gnomAD v2: 2-26653650-G-A
gnomAD v3: 2-26430782-G-A
gnomAD v4: 2-26430782-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26430782G>A , CM000664.2:g.26430782G>A GRCh38
NC_000002.11:g.26653650G>A , CM000664.1:g.26653650G>A GRCh37
NC_000002.10:g.26507154G>A NCBI36
NG_042824.1:g.33871G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288710.7:c.679-4G>A MANE Select ENSP00000288710.2:n.679-4G>A
ENST00000649059.1:c.665-4G>A
ENST00000288710.6:c.679-4G>A ENSP00000288710.2:n.679-4G>A
ENST00000421869.5:c.*132-4G>A ENSP00000414375.1:n.*132-4G>A
ENST00000442810.5:n.166-4G>A
ENST00000483675.1:n.276G>A
ENST00000487307.5:n.386-4G>A
ENST00000497651.1:n.569-4G>A
NM_145038.3:c.679-4G>A NP_659475.2:n.679-4G>A
NM_145038.4:c.679-4G>A NP_659475.2:n.679-4G>A
XM_005264637.3:c.61-4G>A XP_005264694.1:n.61-4G>A
XM_005264638.3:c.-202-4G>A XP_005264695.1:n.-202-4G>A
XM_017005271.1:c.-202-4G>A XP_016860760.1:n.-202-4G>A
XM_024453218.1:c.-202-4G>A XP_024308986.1:n.-202-4G>A
NM_145038.5:c.679-4G>A MANE Select NP_659475.2:n.679-4G>A