Canonical Allele Identifier: CA346106344

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26440398G>C , CM000664.2:g.26440398G>C	GRCh38
NC_000002.11:g.26663266G>C , CM000664.1:g.26663266G>C	GRCh37
NC_000002.10:g.26516770G>C	NCBI36
NG_042824.1:g.43487G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.909G>C MANE Select	NP_659475.2:p.Gln303His
ENST00000288710.7:c.909G>C MANE Select	ENSP00000288710.2:p.Gln303His
NM_145038.3:c.909G>C	NP_659475.2:p.Gln303His
NM_145038.4:c.909G>C	NP_659475.2:p.Gln303His
ENST00000288710.6:c.909G>C	ENSP00000288710.2:p.Gln303His
ENST00000421869.5:c.*342-3824G>C	ENSP00000414375.1:n.*342-3824G>C
ENST00000442810.5:n.396G>C
ENST00000483675.1:n.510G>C
ENST00000649059.1:c.875-3824G>C
XM_005264637.3:c.291G>C	XP_005264694.1:p.Gln97His
XM_005264638.3:c.9-3824G>C	XP_005264695.1:n.9-3824G>C
XM_017005271.1:c.9-3824G>C	XP_016860760.1:n.9-3824G>C
XM_024453218.1:c.9-3824G>C	XP_024308986.1:n.9-3824G>C