Canonical Allele Identifier: CA467849232
Community Standard Title: NM_016219.5(MAN1B1):c.81C>T (p.Ala27=)
Gene: MAN1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137087080C>T , CM000671.2:g.137087080C>T GRCh38
NC_000009.11:g.139981532C>T , CM000671.1:g.139981532C>T GRCh37
NC_000009.10:g.139101353C>T NCBI36
NG_031978.1:g.5154C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016219.5:c.81C>T MANE Select NP_057303.2:p.Ala27=
ENST00000371589.9:c.81C>T MANE Select ENSP00000360645.4:p.Ala27=
NM_016219.4:c.81C>T NP_057303.2:p.Ala27=
NR_045720.1:n.154C>T
NR_045720.2:n.96C>T
NR_045721.1:n.154C>T
NR_045721.2:n.96C>T
ENST00000371587.9:c.81C>T ENSP00000483132.2:p.Ala27=
ENST00000371589.8:c.81C>T ENSP00000360645.4:p.Ala27=
ENST00000475449.7:c.81C>T ENSP00000448658.2:p.Ala27=
ENST00000535144.5:c.-28C>T ENSP00000441398.2:n.-28C>T
ENST00000535144.6:c.81C>T ENSP00000441398.3:p.Ala27=
ENST00000542372.2:c.81C>T ENSP00000444189.2:p.Ala27=
ENST00000544448.5:c.81C>T ENSP00000444966.2:p.Ala27=
ENST00000544448.6:c.81C>T ENSP00000444966.2:p.Ala27=
ENST00000545539.6:c.81C>T ENSP00000440314.2:p.Ala27=
ENST00000682117.1:c.81C>T ENSP00000507328.1:p.Ala27=
ENST00000682210.1:n.105C>T
ENST00000682212.1:c.81C>T ENSP00000508217.1:p.Ala27=
ENST00000682425.1:n.116C>T
ENST00000682881.1:c.81C>T ENSP00000506762.1:p.Ala27=
ENST00000683135.1:c.81C>T ENSP00000507130.1:p.Ala27=
ENST00000683324.1:c.81C>T ENSP00000507373.1:p.Ala27=
ENST00000683355.1:c.81C>T ENSP00000508045.1:p.Ala27=
ENST00000683475.1:c.81C>T ENSP00000507749.1:p.Ala27=
ENST00000683979.1:c.81C>T ENSP00000507362.1:p.Ala27=
ENST00000683987.1:c.81C>T ENSP00000507715.1:p.Ala27=
ENST00000684138.1:c.81C>T ENSP00000506755.1:p.Ala27=
ENST00000684144.1:c.81C>T ENSP00000508213.1:p.Ala27=
ENST00000684229.1:n.124C>T
ENST00000684272.1:c.81C>T ENSP00000506776.1:p.Ala27=
ENST00000684297.1:c.81C>T ENSP00000507160.1:p.Ala27=
ENST00000684366.1:c.81C>T ENSP00000507668.1:p.Ala27=
ENST00000684645.1:n.101C>T
ENST00000684759.1:c.81C>T ENSP00000507818.1:p.Ala27=
XM_006716945.2:c.81C>T XP_006717008.1:p.Ala27=
XM_006716945.4:c.81C>T XP_006717008.1:p.Ala27=
XM_024447403.1:c.81C>T XP_024303171.1:p.Ala27=
XR_001746176.1:n.140C>T