Canonical Allele Identifier: CA13103319
Gene: MAN1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137108115C>A , CM000671.2:g.137108115C>A GRCh38
NC_000009.11:g.140002567C>A , CM000671.1:g.140002567C>A GRCh37
NC_000009.10:g.139122388C>A NCBI36
NG_031978.1:g.26189C>A

Transcript Alleles

HGVS Amino-acid Change
NM_016219.5:c.1897-273C>A MANE Select NP_057303.2:n.1897-273C>A
ENST00000371589.9:c.1897-273C>A MANE Select ENSP00000360645.4:n.1897-273C>A
NM_016219.4:c.1897-273C>A NP_057303.2:n.1897-273C>A
NR_045720.1:n.1945-273C>A
NR_045720.2:n.1887-273C>A
NR_045721.1:n.2101-273C>A
NR_045721.2:n.2043-273C>A
ENST00000371587.9:c.*1574-273C>A ENSP00000483132.2:n.*1574-273C>A
ENST00000371589.8:c.1897-273C>A ENSP00000360645.4:n.1897-273C>A
ENST00000474902.5:n.1543-273C>A
ENST00000475449.6:c.317-416C>A
ENST00000475449.7:c.1711-273C>A ENSP00000448658.2:n.1711-273C>A
ENST00000480100.3:n.2690-273C>A
ENST00000535028.5:n.3093-273C>A
ENST00000535028.6:n.4160-273C>A
ENST00000535144.5:c.*153C>A ENSP00000441398.2:n.*153C>A
ENST00000535144.6:c.*153C>A ENSP00000441398.3:n.*153C>A
ENST00000536268.2:n.3021C>A
ENST00000536349.5:n.4255-273C>A
ENST00000536349.6:n.4031-273C>A
ENST00000540391.5:n.3147-273C>A
ENST00000544448.5:c.*219-273C>A ENSP00000444966.2:n.*219-273C>A
ENST00000544448.6:c.*219-312C>A ENSP00000444966.2:n.*219-312C>A
ENST00000545539.6:c.*1799-273C>A ENSP00000440314.2:n.*1799-273C>A
ENST00000550113.1:c.209-312C>A
ENST00000550113.2:n.448-273C>A
ENST00000682117.1:c.1897-312C>A ENSP00000507328.1:n.1897-312C>A
ENST00000682212.1:c.1893-273C>A ENSP00000508217.1:n.1893-273C>A
ENST00000682425.1:n.2147-273C>A
ENST00000682502.1:n.2331C>A
ENST00000682881.1:c.1897-416C>A ENSP00000506762.1:n.1897-416C>A
ENST00000682964.1:n.2070C>A
ENST00000683135.1:c.*219-273C>A ENSP00000507130.1:n.*219-273C>A
ENST00000683324.1:c.1894-273C>A ENSP00000507373.1:n.1894-273C>A
ENST00000683355.1:c.1897-97C>A ENSP00000508045.1:n.1897-97C>A
ENST00000683475.1:c.*670-273C>A ENSP00000507749.1:n.*670-273C>A
ENST00000683529.1:n.1106-273C>A
ENST00000683979.1:c.*5843-273C>A ENSP00000507362.1:n.*5843-273C>A
ENST00000683987.1:c.1886-273C>A ENSP00000507715.1:n.1886-273C>A
ENST00000684138.1:c.*1599-273C>A ENSP00000506755.1:n.*1599-273C>A
ENST00000684144.1:c.1891-273C>A ENSP00000508213.1:n.1891-273C>A
ENST00000684229.1:n.2023-273C>A
ENST00000684272.1:c.*1802-273C>A ENSP00000506776.1:n.*1802-273C>A
ENST00000684297.1:c.*778-273C>A ENSP00000507160.1:n.*778-273C>A
ENST00000684336.1:n.4774C>A
ENST00000684366.1:c.*380-273C>A ENSP00000507668.1:n.*380-273C>A
ENST00000684645.1:n.6369-273C>A
ENST00000684759.1:c.1890-273C>A ENSP00000507818.1:n.1890-273C>A
XM_006716945.2:c.*153C>A XP_006717008.1:n.*153C>A
XM_006716945.4:c.*153C>A XP_006717008.1:n.*153C>A
XM_017014239.1:c.*153C>A XP_016869728.1:n.*153C>A
XM_024447403.1:c.1980-273C>A XP_024303171.1:n.1980-273C>A
XR_001746176.1:n.2062-273C>A