Canonical Allele Identifier: CA1561856

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26424335T>G , CM000664.2:g.26424335T>G	GRCh38
NC_000002.11:g.26647203T>G , CM000664.1:g.26647203T>G	GRCh37
NC_000002.10:g.26500707T>G	NCBI36
NG_042824.1:g.27424T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.421T>G MANE Select	NP_659475.2:p.Trp141Gly
ENST00000288710.7:c.421T>G MANE Select	ENSP00000288710.2:p.Trp141Gly
NM_145038.3:c.421T>G	NP_659475.2:p.Trp141Gly
NM_145038.4:c.421T>G	NP_659475.2:p.Trp141Gly
ENST00000288710.6:c.421T>G	ENSP00000288710.2:p.Trp141Gly
ENST00000421869.5:c.356+2935T>G	ENSP00000414375.1:n.356+2935T>G
ENST00000487307.5:n.247+2935T>G
ENST00000497651.1:n.311T>G
ENST00000649059.1:c.407T>G
XM_005264637.3:c.-79+2935T>G	XP_005264694.1:n.-79+2935T>G
XM_005264638.3:c.-341+2935T>G	XP_005264695.1:n.-341+2935T>G
XM_017005271.1:c.-460T>G	XP_016860760.1:n.-460T>G
XM_024453218.1:c.-341+2935T>G	XP_024308986.1:n.-341+2935T>G