Canonical Allele Identifier: CA1562340
Community Standard Title: NM_145038.5(DRC1):c.1600-2A>G
Gene: DRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26450590A>G , CM000664.2:g.26450590A>G GRCh38
NC_000002.11:g.26673458A>G , CM000664.1:g.26673458A>G GRCh37
NC_000002.10:g.26526962A>G NCBI36
NG_042824.1:g.53679A>G

Transcript Alleles

HGVS Amino-acid Change
NM_145038.5:c.1600-2A>G MANE Select NP_659475.2:n.1600-2A>G
ENST00000288710.7:c.1600-2A>G MANE Select ENSP00000288710.2:n.1600-2A>G
NM_145038.3:c.1600-2A>G NP_659475.2:n.1600-2A>G
NM_145038.4:c.1600-2A>G NP_659475.2:n.1600-2A>G
ENST00000288710.6:c.1600-2A>G ENSP00000288710.2:n.1600-2A>G
ENST00000439066.2:n.330-2A>G
ENST00000649059.1:c.1446-2A>G
XM_005264637.3:c.982-2A>G XP_005264694.1:n.982-2A>G
XM_005264638.3:c.580-2A>G XP_005264695.1:n.580-2A>G
XM_017005271.1:c.580-2A>G XP_016860760.1:n.580-2A>G
XM_024453218.1:c.580-2A>G XP_024308986.1:n.580-2A>G