Canonical Allele Identifier: CA1562178

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26444799C>G , CM000664.2:g.26444799C>G	GRCh38
NC_000002.11:g.26667667C>G , CM000664.1:g.26667667C>G	GRCh37
NC_000002.10:g.26521171C>G	NCBI36
NG_042824.1:g.47888C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.1247C>G MANE Select	NP_659475.2:p.Ala416Gly
ENST00000288710.7:c.1247C>G MANE Select	ENSP00000288710.2:p.Ala416Gly
NM_145038.3:c.1247C>G	NP_659475.2:p.Ala416Gly
NM_145038.4:c.1247C>G	NP_659475.2:p.Ala416Gly
ENST00000288710.6:c.1247C>G	ENSP00000288710.2:p.Ala416Gly
ENST00000421869.5:c.*560C>G	ENSP00000414375.1:n.*560C>G
ENST00000483675.1:n.848C>G
ENST00000649059.1:c.1093C>G
XM_005264637.3:c.629C>G	XP_005264694.1:p.Ala210Gly
XM_005264638.3:c.227C>G	XP_005264695.1:p.Ala76Gly
XM_017005271.1:c.227C>G	XP_016860760.1:p.Ala76Gly
XM_024453218.1:c.227C>G	XP_024308986.1:p.Ala76Gly