Canonical Allele Identifier: CA11181560
Community Standard Title: NM_145038.5(DRC1):c.541-311G>A
Gene: DRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26429317G>A , CM000664.2:g.26429317G>A GRCh38
NC_000002.11:g.26652185G>A , CM000664.1:g.26652185G>A GRCh37
NC_000002.10:g.26505689G>A NCBI36
NG_042824.1:g.32406G>A

Transcript Alleles

HGVS Amino-acid Change
NM_145038.5:c.541-311G>A MANE Select NP_659475.2:n.541-311G>A
ENST00000288710.7:c.541-311G>A MANE Select ENSP00000288710.2:n.541-311G>A
NM_145038.3:c.541-311G>A NP_659475.2:n.541-311G>A
NM_145038.4:c.541-311G>A NP_659475.2:n.541-311G>A
ENST00000288710.6:c.541-311G>A ENSP00000288710.2:n.541-311G>A
ENST00000421869.5:c.357-311G>A ENSP00000414375.1:n.357-311G>A
ENST00000487307.5:n.248-311G>A
ENST00000497651.1:n.431-311G>A
ENST00000649059.1:c.527-311G>A
XM_005264637.3:c.-78-311G>A XP_005264694.1:n.-78-311G>A
XM_005264638.3:c.-340-311G>A XP_005264695.1:n.-340-311G>A
XM_017005271.1:c.-340-311G>A XP_016860760.1:n.-340-311G>A
XM_024453218.1:c.-340-311G>A XP_024308986.1:n.-340-311G>A