Canonical Allele Identifier: CA404258885
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665811C>A , CM000681.2:g.12665811C>A GRCh38
NC_000019.9:g.12776625C>A , CM000681.1:g.12776625C>A GRCh37
NC_000019.8:g.12637625C>A NCBI36
NG_008318.1:g.5967G>T
NG_015814.1:g.4008C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.160-6G>T MANE Select ENSP00000395473.2:n.160-6G>T
ENST00000221363.8:c.160-6G>T ENSP00000221363.4:n.160-6G>T
ENST00000456935.6:c.160-6G>T ENSP00000395473.2:n.160-6G>T
ENST00000466794.5:n.142-6G>T
ENST00000486847.2:c.160-286G>T ENSP00000470174.1:n.160-286G>T
ENST00000596512.5:n.201-286G>T
ENST00000597961.1:c.151-6G>T ENSP00000472710.1:n.151-6G>T
ENST00000598876.1:c.181G>T ENSP00000470533.1:p.Val61Leu
ENST00000600281.1:n.201-6G>T
NM_000528.3:c.160-6G>T NP_000519.2:n.160-6G>T
NM_001173498.1:c.160-6G>T NP_001166969.1:n.160-6G>T
XM_005259913.1:c.160-6G>T XP_005259970.1:n.160-6G>T
XM_005259913.2:c.160-6G>T XP_005259970.1:n.160-6G>T
XM_024451518.1:c.-859-6G>T XP_024307286.1:n.-859-6G>T
NM_000528.4:c.160-6G>T MANE Select NP_000519.2:n.160-6G>T
NM_001173498.2:c.160-6G>T NP_001166969.1:n.160-6G>T