Canonical Allele Identifier: CA1562303

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26450005A>C , CM000664.2:g.26450005A>C	GRCh38
NC_000002.11:g.26672873A>C , CM000664.1:g.26672873A>C	GRCh37
NC_000002.10:g.26526377A>C	NCBI36
NG_042824.1:g.53094A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.1519A>C MANE Select	NP_659475.2:p.Ile507Leu
ENST00000288710.7:c.1519A>C MANE Select	ENSP00000288710.2:p.Ile507Leu
NM_145038.3:c.1519A>C	NP_659475.2:p.Ile507Leu
NM_145038.4:c.1519A>C	NP_659475.2:p.Ile507Leu
ENST00000288710.6:c.1519A>C	ENSP00000288710.2:p.Ile507Leu
ENST00000439066.2:n.249A>C
ENST00000649059.1:c.1365A>C
XM_005264637.3:c.901A>C	XP_005264694.1:p.Ile301Leu
XM_005264638.3:c.499A>C	XP_005264695.1:p.Ile167Leu
XM_017005271.1:c.499A>C	XP_016860760.1:p.Ile167Leu
XM_024453218.1:c.499A>C	XP_024308986.1:p.Ile167Leu