Canonical Allele Identifier: CA346098711

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26424269A>G , CM000664.2:g.26424269A>G	GRCh38
NC_000002.11:g.26647137A>G , CM000664.1:g.26647137A>G	GRCh37
NC_000002.10:g.26500641A>G	NCBI36
NG_042824.1:g.27358A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.357-2A>G MANE Select	NP_659475.2:n.357-2A>G
ENST00000288710.7:c.357-2A>G MANE Select	ENSP00000288710.2:n.357-2A>G
NM_145038.3:c.357-2A>G	NP_659475.2:n.357-2A>G
NM_145038.4:c.357-2A>G	NP_659475.2:n.357-2A>G
ENST00000288710.6:c.357-2A>G	ENSP00000288710.2:n.357-2A>G
ENST00000421869.5:c.356+2869A>G	ENSP00000414375.1:n.356+2869A>G
ENST00000487307.5:n.247+2869A>G
ENST00000497651.1:n.247-2A>G
ENST00000649059.1:c.343-2A>G
XM_005264637.3:c.-79+2869A>G	XP_005264694.1:n.-79+2869A>G
XM_005264638.3:c.-341+2869A>G	XP_005264695.1:n.-341+2869A>G
XM_017005271.1:c.-524-2A>G	XP_016860760.1:n.-524-2A>G
XM_024453218.1:c.-341+2869A>G	XP_024308986.1:n.-341+2869A>G