Canonical Allele Identifier: CA14784564

Gene: MACROD2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.16022761T>C , CM000682.2:g.16022761T>C	GRCh38
NC_000020.10:g.16003406T>C , CM000682.1:g.16003406T>C	GRCh37
NC_000020.9:g.15951406T>C	NCBI36
NG_054905.1:g.2032262T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684519.1:c.1154-18440T>C MANE Select	ENSP00000507484.1:n.1154-18440T>C
ENST00000642719.1:c.1238-18440T>C	ENSP00000496601.1:n.1238-18440T>C
ENST00000217246.8:c.1154-18440T>C	ENSP00000217246.4:n.1154-18440T>C
ENST00000378058.7:c.449-18440T>C	ENSP00000367297.3:n.449-18440T>C
ENST00000402914.5:c.449-18440T>C	ENSP00000385290.1:n.449-18440T>C
ENST00000407045.3:c.107-18440T>C	ENSP00000385516.3:n.107-18440T>C
ENST00000486914.1:n.427-18440T>C
NM_001033087.1:c.449-18440T>C	NP_001028259.1:n.449-18440T>C
NM_080676.5:c.1154-18440T>C	NP_542407.2:n.1154-18440T>C
XM_011529168.1:c.449-18440T>C	XP_011527470.1:n.449-18440T>C
XM_011529169.1:c.338-18440T>C	XP_011527471.1:n.338-18440T>C
NM_001351661.1:c.1154-18440T>C	NP_001338590.1:n.1154-18440T>C
NM_001351663.1:c.1154-18440T>C	NP_001338592.1:n.1154-18440T>C
NM_001351664.1:c.530-18440T>C	NP_001338593.1:n.530-18440T>C
XM_017027675.1:c.551-18440T>C	XP_016883164.1:n.551-18440T>C
XM_017027676.1:c.551-18440T>C	XP_016883165.1:n.551-18440T>C
XM_024451834.1:c.632-18440T>C	XP_024307602.1:n.632-18440T>C
NM_001033087.2:c.449-18440T>C	NP_001028259.1:n.449-18440T>C
NM_001351661.2:c.1154-18440T>C MANE Select	NP_001338590.1:n.1154-18440T>C
NM_001351663.2:c.1154-18440T>C	NP_001338592.1:n.1154-18440T>C
NM_001351664.2:c.530-18440T>C	NP_001338593.1:n.530-18440T>C
NM_080676.6:c.1154-18440T>C	NP_542407.2:n.1154-18440T>C