Canonical Allele Identifier: CA1562461
Community Standard Title: NM_145038.5(DRC1):c.1957C>T (p.Arg653Cys)
Gene: DRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26454684C>T , CM000664.2:g.26454684C>T GRCh38
NC_000002.11:g.26677552C>T , CM000664.1:g.26677552C>T GRCh37
NC_000002.10:g.26531056C>T NCBI36
NG_042824.1:g.57773C>T

Transcript Alleles

HGVS Amino-acid Change
NM_145038.5:c.1957C>T MANE Select NP_659475.2:p.Arg653Cys
ENST00000288710.7:c.1957C>T MANE Select ENSP00000288710.2:p.Arg653Cys
NM_145038.3:c.1957C>T NP_659475.2:p.Arg653Cys
NM_145038.4:c.1957C>T NP_659475.2:p.Arg653Cys
ENST00000288710.6:c.1957C>T ENSP00000288710.2:p.Arg653Cys
ENST00000649059.1:c.1803C>T
XM_005264637.3:c.1339C>T XP_005264694.1:p.Arg447Cys
XM_005264638.3:c.937C>T XP_005264695.1:p.Arg313Cys
XM_017005271.1:c.937C>T XP_016860760.1:p.Arg313Cys
XM_024453218.1:c.937C>T XP_024308986.1:p.Arg313Cys