Canonical Allele Identifier: CA2838472914

Gene: MAN2C1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.75362599A>G , CM000677.2:g.75362599A>G	GRCh38
NC_000015.9:g.75654940A>G , CM000677.1:g.75654940A>G	GRCh37
NC_000015.8:g.73441993A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267978.10:c.897+43T>C MANE Select	ENSP00000267978.4:n.897+43T>C
ENST00000267978.9:c.897+43T>C	ENSP00000267978.4:n.897+43T>C
ENST00000421803.6:c.*77+43T>C	ENSP00000390738.2:n.*77+43T>C
ENST00000563441.5:n.793+43T>C
ENST00000563622.5:c.601-146T>C	ENSP00000454589.1:n.601-146T>C
ENST00000564785.5:n.579T>C
ENST00000565683.5:c.897+43T>C	ENSP00000457788.1:n.897+43T>C
ENST00000565784.5:c.*236+43T>C	ENSP00000456419.1:n.*236+43T>C
ENST00000565801.1:n.538+43T>C
ENST00000566634.5:c.*236+43T>C	ENSP00000456914.1:n.*236+43T>C
ENST00000568944.5:n.39T>C
ENST00000569482.5:c.897+43T>C	ENSP00000455998.1:n.897+43T>C
ENST00000570257.6:c.627+43T>C	ENSP00000456667.2:n.627+43T>C
NM_001256494.1:c.897+43T>C	NP_001243423.1:n.897+43T>C
NM_001256495.1:c.897+43T>C	NP_001243424.1:n.897+43T>C
NM_001256496.1:c.601-146T>C	NP_001243425.1:n.601-146T>C
NM_006715.3:c.897+43T>C	NP_006706.2:n.897+43T>C
XM_005254384.1:c.897+43T>C	XP_005254441.1:n.897+43T>C
XM_011521567.1:c.897+43T>C	XP_011519869.1:n.897+43T>C
XM_011521568.1:c.601-146T>C	XP_011519870.1:n.601-146T>C
XM_011521569.1:c.417+43T>C	XP_011519871.1:n.417+43T>C
XM_011521570.1:c.39+43T>C	XP_011519872.1:n.39+43T>C
XR_931832.1:n.1428+43T>C
XR_931833.1:n.1428+43T>C
XR_931834.1:n.1428+43T>C
XR_931835.1:n.1428+43T>C
XM_005254384.3:c.897+43T>C	XP_005254441.1:n.897+43T>C
XM_017022186.1:c.942+43T>C	XP_016877675.1:n.942+43T>C
XM_017022187.1:c.942+43T>C	XP_016877676.1:n.942+43T>C
XM_017022188.2:c.601-146T>C	XP_016877677.1:n.601-146T>C
XR_001751282.1:n.1289+43T>C
XR_001751283.1:n.1289+43T>C
XR_001751284.1:n.1289+43T>C
XR_001751285.1:n.1289+43T>C
XR_001751286.1:n.1289+43T>C
XR_001751287.1:n.1289+43T>C
XR_001751288.1:n.1289+43T>C
XR_002957638.1:n.1289+43T>C
XR_002957639.1:n.723+43T>C
NM_006715.4:c.897+43T>C MANE Select	NP_006706.2:n.897+43T>C
NM_001256494.2:c.897+43T>C	NP_001243423.1:n.897+43T>C
NM_001256495.2:c.897+43T>C	NP_001243424.1:n.897+43T>C
NM_001256496.2:c.601-146T>C	NP_001243425.1:n.601-146T>C