Canonical Allele Identifier: CA346115944
Gene: DRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26450067G>C , CM000664.2:g.26450067G>C GRCh38
NC_000002.11:g.26672935G>C , CM000664.1:g.26672935G>C GRCh37
NC_000002.10:g.26526439G>C NCBI36
NG_042824.1:g.53156G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288710.7:c.1581G>C MANE Select ENSP00000288710.2:p.Arg527Ser
ENST00000649059.1:c.1427G>C
ENST00000288710.6:c.1581G>C ENSP00000288710.2:p.Arg527Ser
ENST00000439066.2:n.311G>C
NM_145038.3:c.1581G>C NP_659475.2:p.Arg527Ser
NM_145038.4:c.1581G>C NP_659475.2:p.Arg527Ser
XM_005264637.3:c.963G>C XP_005264694.1:p.Arg321Ser
XM_005264638.3:c.561G>C XP_005264695.1:p.Arg187Ser
XM_017005271.1:c.561G>C XP_016860760.1:p.Arg187Ser
XM_024453218.1:c.561G>C XP_024308986.1:p.Arg187Ser
NM_145038.5:c.1581G>C MANE Select NP_659475.2:p.Arg527Ser