Canonical Allele Identifier: CA346099064

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26424341G>T , CM000664.2:g.26424341G>T	GRCh38
NC_000002.11:g.26647209G>T , CM000664.1:g.26647209G>T	GRCh37
NC_000002.10:g.26500713G>T	NCBI36
NG_042824.1:g.27430G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.427G>T MANE Select	NP_659475.2:p.Glu143Ter
ENST00000288710.7:c.427G>T MANE Select	ENSP00000288710.2:p.Glu143Ter
NM_145038.3:c.427G>T	NP_659475.2:p.Glu143Ter
NM_145038.4:c.427G>T	NP_659475.2:p.Glu143Ter
ENST00000288710.6:c.427G>T	ENSP00000288710.2:p.Glu143Ter
ENST00000421869.5:c.356+2941G>T	ENSP00000414375.1:n.356+2941G>T
ENST00000487307.5:n.247+2941G>T
ENST00000497651.1:n.317G>T
ENST00000649059.1:c.413G>T
XM_005264637.3:c.-79+2941G>T	XP_005264694.1:n.-79+2941G>T
XM_005264638.3:c.-341+2941G>T	XP_005264695.1:n.-341+2941G>T
XM_017005271.1:c.-454G>T	XP_016860760.1:n.-454G>T
XM_024453218.1:c.-341+2941G>T	XP_024308986.1:n.-341+2941G>T