Canonical Allele Identifier: CA2838472911

Gene: MAN2C1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.75361417C>A , CM000677.2:g.75361417C>A	GRCh38
NC_000015.9:g.75653758C>A , CM000677.1:g.75653758C>A	GRCh37
NC_000015.8:g.73440811C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267978.10:c.1219-36G>T MANE Select	ENSP00000267978.4:n.1219-36G>T
ENST00000267978.9:c.1219-36G>T	ENSP00000267978.4:n.1219-36G>T
ENST00000421803.6:c.*399-36G>T	ENSP00000390738.2:n.*399-36G>T
ENST00000562228.5:n.436-36G>T
ENST00000563013.1:n.624G>T
ENST00000563058.5:n.260-36G>T
ENST00000563441.5:n.1115-36G>T
ENST00000563622.5:c.922-36G>T	ENSP00000454589.1:n.922-36G>T
ENST00000564785.5:n.1232G>T
ENST00000565683.5:c.1219-36G>T	ENSP00000457788.1:n.1219-36G>T
ENST00000566253.5:n.359-36G>T
ENST00000566634.5:c.*558-36G>T	ENSP00000456914.1:n.*558-36G>T
ENST00000568944.5:n.506-36G>T
ENST00000569482.5:c.1219-36G>T	ENSP00000455998.1:n.1219-36G>T
NM_001256494.1:c.1219-36G>T	NP_001243423.1:n.1219-36G>T
NM_001256495.1:c.1219-36G>T	NP_001243424.1:n.1219-36G>T
NM_001256496.1:c.922-36G>T	NP_001243425.1:n.922-36G>T
NM_006715.3:c.1219-36G>T	NP_006706.2:n.1219-36G>T
XM_005254384.1:c.1219-36G>T	XP_005254441.1:n.1219-36G>T
XM_011521567.1:c.1219-36G>T	XP_011519869.1:n.1219-36G>T
XM_011521568.1:c.922-36G>T	XP_011519870.1:n.922-36G>T
XM_011521569.1:c.739-36G>T	XP_011519871.1:n.739-36G>T
XM_011521570.1:c.361-36G>T	XP_011519872.1:n.361-36G>T
XR_931832.1:n.1750-36G>T
XR_931833.1:n.1750-36G>T
XR_931834.1:n.1750-36G>T
XR_931835.1:n.1750-36G>T
XM_005254384.3:c.1219-36G>T	XP_005254441.1:n.1219-36G>T
XM_017022186.1:c.1264-36G>T	XP_016877675.1:n.1264-36G>T
XM_017022187.1:c.1264-36G>T	XP_016877676.1:n.1264-36G>T
XM_017022188.2:c.922-36G>T	XP_016877677.1:n.922-36G>T
XR_001751282.1:n.1611-36G>T
XR_001751283.1:n.1611-36G>T
XR_001751284.1:n.1611-36G>T
XR_001751285.1:n.1611-36G>T
XR_001751286.1:n.1611-36G>T
XR_001751287.1:n.1611-36G>T
XR_001751288.1:n.1611-36G>T
XR_002957638.1:n.1611-36G>T
XR_002957639.1:n.1045-36G>T
NM_006715.4:c.1219-36G>T MANE Select	NP_006706.2:n.1219-36G>T
NM_001256494.2:c.1219-36G>T	NP_001243423.1:n.1219-36G>T
NM_001256495.2:c.1219-36G>T	NP_001243424.1:n.1219-36G>T
NM_001256496.2:c.922-36G>T	NP_001243425.1:n.922-36G>T