Canonical Allele Identifier: CA393456048
Gene: MAN2C1 HGNC NCBI
NEIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.75356033C>A , CM000677.2:g.75356033C>A GRCh38
NC_000015.9:g.75648374C>A , CM000677.1:g.75648374C>A GRCh37
NC_000015.8:g.73435427C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000267978.10:c.2997-1G>T (MAN2C1) MANE Select ENSP00000267978.4:n.2997-1G>T
ENST00000355059.9:c.*999C>A (NEIL1) MANE Select ENSP00000347170.4:n.*999C>A
ENST00000267978.9:c.2997-1G>T (MAN2C1) ENSP00000267978.4:n.2997-1G>T
ENST00000355059.8:c.*999C>A (NEIL1) ENSP00000347170.4:n.*999C>A
ENST00000561693.5:n.914-1G>T (MAN2C1)
ENST00000562067.5:n.470-1G>T (MAN2C1)
ENST00000563622.5:c.2700-1G>T (MAN2C1) ENSP00000454589.1:n.2700-1G>T
ENST00000564929.5:n.611-1G>T (MAN2C1)
ENST00000565683.5:c.3048-1G>T (MAN2C1) ENSP00000457788.1:n.3048-1G>T
ENST00000566099.5:n.1089-1G>T (MAN2C1)
ENST00000569482.5:c.2928-1G>T (MAN2C1) ENSP00000455998.1:n.2928-1G>T
ENST00000618257.1:c.1086-1G>T (MAN2C1) ENSP00000479988.1:n.1086-1G>T
NM_001256494.1:c.3048-1G>T (MAN2C1) NP_001243423.1:n.3048-1G>T
NM_001256495.1:c.2928-1G>T (MAN2C1) NP_001243424.1:n.2928-1G>T
NM_001256496.1:c.2700-1G>T (MAN2C1) NP_001243425.1:n.2700-1G>T
NM_006715.3:c.2997-1G>T (MAN2C1) NP_006706.2:n.2997-1G>T
XM_005254384.1:c.3021-1G>T (MAN2C1) XP_005254441.1:n.3021-1G>T
XM_011521567.1:c.3054-1G>T (MAN2C1) XP_011519869.1:n.3054-1G>T
XM_011521568.1:c.2757-1G>T (MAN2C1) XP_011519870.1:n.2757-1G>T
XM_011521569.1:c.2574-1G>T (MAN2C1) XP_011519871.1:n.2574-1G>T
XM_011521570.1:c.2196-1G>T (MAN2C1) XP_011519872.1:n.2196-1G>T
XR_931832.1:n.3302-1G>T (MAN2C1)
XM_005254384.3:c.3021-1G>T (MAN2C1) XP_005254441.1:n.3021-1G>T
XM_017022186.1:c.3066-1G>T (MAN2C1) XP_016877675.1:n.3066-1G>T
XM_017022187.1:c.2973-1G>T (MAN2C1) XP_016877676.1:n.2973-1G>T
XM_017022188.2:c.2631-1G>T (MAN2C1) XP_016877677.1:n.2631-1G>T
XR_001751282.1:n.3232-1G>T (MAN2C1)
XR_001751283.1:n.3163-1G>T (MAN2C1)
XR_001751284.1:n.3427-1G>T (MAN2C1)
XR_002957638.1:n.3496-1G>T (MAN2C1)
XR_002957639.1:n.2930-1G>T (MAN2C1)
NM_006715.4:c.2997-1G>T (MAN2C1) MANE Select NP_006706.2:n.2997-1G>T
NM_001352520.2:c.*999C>A (NEIL1) NP_001339449.1:n.*999C>A
NM_024608.4:c.*999C>A (NEIL1) MANE Select NP_078884.2:n.*999C>A
NR_046311.2:n.2585C>A (NEIL1)
NM_001256494.2:c.3048-1G>T (MAN2C1) NP_001243423.1:n.3048-1G>T
NM_001256495.2:c.2928-1G>T (MAN2C1) NP_001243424.1:n.2928-1G>T
NM_001256496.2:c.2700-1G>T (MAN2C1) NP_001243425.1:n.2700-1G>T