Canonical Allele Identifier: CA1562143

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26444317G>A , CM000664.2:g.26444317G>A	GRCh38
NC_000002.11:g.26667185G>A , CM000664.1:g.26667185G>A	GRCh37
NC_000002.10:g.26520689G>A	NCBI36
NG_042824.1:g.47406G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.1124G>A MANE Select	NP_659475.2:p.Arg375His
ENST00000288710.7:c.1124G>A MANE Select	ENSP00000288710.2:p.Arg375His
NM_145038.3:c.1124G>A	NP_659475.2:p.Arg375His
NM_145038.4:c.1124G>A	NP_659475.2:p.Arg375His
ENST00000288710.6:c.1124G>A	ENSP00000288710.2:p.Arg375His
ENST00000421869.5:c.*437G>A	ENSP00000414375.1:n.*437G>A
ENST00000483675.1:n.725G>A
ENST00000649059.1:c.970G>A
XM_005264637.3:c.506G>A	XP_005264694.1:p.Arg169His
XM_005264638.3:c.104G>A	XP_005264695.1:p.Arg35His
XM_017005271.1:c.104G>A	XP_016860760.1:p.Arg35His
XM_024453218.1:c.104G>A	XP_024308986.1:p.Arg35His