Canonical Allele Identifier: CA12976518

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137098027G>C , CM000671.2:g.137098027G>C	GRCh38
NC_000009.11:g.139992479G>C , CM000671.1:g.139992479G>C	GRCh37
NC_000009.10:g.139112300G>C	NCBI36
NG_031978.1:g.16101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*432+90G>C	ENSP00000483132.2:n.*432+90G>C
ENST00000475449.7:c.730+90G>C	ENSP00000448658.2:n.730+90G>C
ENST00000535144.6:c.730+90G>C	ENSP00000441398.3:n.730+90G>C
ENST00000542372.2:c.646+90G>C	ENSP00000444189.2:n.646+90G>C
ENST00000544448.6:c.730+90G>C	ENSP00000444966.2:n.730+90G>C
ENST00000545539.6:c.*635+90G>C	ENSP00000440314.2:n.*635+90G>C
ENST00000682117.1:c.730+90G>C	ENSP00000507328.1:n.730+90G>C
ENST00000682210.1:n.754+90G>C
ENST00000682212.1:c.730+90G>C	ENSP00000508217.1:n.730+90G>C
ENST00000682425.1:n.980+90G>C
ENST00000682881.1:c.730+90G>C	ENSP00000506762.1:n.730+90G>C
ENST00000682964.1:n.78+90G>C
ENST00000683113.1:n.363+90G>C
ENST00000683135.1:c.730+90G>C	ENSP00000507130.1:n.730+90G>C
ENST00000683324.1:c.727+90G>C	ENSP00000507373.1:n.727+90G>C
ENST00000683355.1:c.730+90G>C	ENSP00000508045.1:n.730+90G>C
ENST00000683475.1:c.730+90G>C	ENSP00000507749.1:n.730+90G>C
ENST00000683979.1:c.*432+90G>C	ENSP00000507362.1:n.*432+90G>C
ENST00000683987.1:c.730+90G>C	ENSP00000507715.1:n.730+90G>C
ENST00000684138.1:c.*432+90G>C	ENSP00000506755.1:n.*432+90G>C
ENST00000684144.1:c.727+90G>C	ENSP00000508213.1:n.727+90G>C
ENST00000684229.1:n.773+90G>C
ENST00000684272.1:c.*635+90G>C	ENSP00000506776.1:n.*635+90G>C
ENST00000684297.1:c.730+90G>C	ENSP00000507160.1:n.730+90G>C
ENST00000684366.1:c.730+90G>C	ENSP00000507668.1:n.730+90G>C
ENST00000684645.1:n.750+90G>C
ENST00000684759.1:c.730+90G>C	ENSP00000507818.1:n.730+90G>C
ENST00000371589.9:c.730+90G>C MANE Select	ENSP00000360645.4:n.730+90G>C
ENST00000371587.8:c.780+90G>C	ENSP00000483132.1:n.780+90G>C
ENST00000371589.8:c.730+90G>C	ENSP00000360645.4:n.730+90G>C
ENST00000474902.5:n.376+90G>C
ENST00000535144.5:c.622+90G>C	ENSP00000441398.2:n.622+90G>C
ENST00000544448.5:c.730+90G>C	ENSP00000444966.2:n.730+90G>C
NM_016219.4:c.730+90G>C	NP_057303.2:n.730+90G>C
NR_045720.1:n.803+90G>C
NR_045721.1:n.934+90G>C
XM_006716945.2:c.730+90G>C	XP_006717008.1:n.730+90G>C
XM_006716945.4:c.730+90G>C	XP_006717008.1:n.730+90G>C
XM_017014239.1:c.433+90G>C	XP_016869728.1:n.433+90G>C
XM_024447403.1:c.730+90G>C	XP_024303171.1:n.730+90G>C
XR_001746176.1:n.920+90G>C
NM_016219.5:c.730+90G>C MANE Select	NP_057303.2:n.730+90G>C
NR_045720.2:n.745+90G>C
NR_045721.2:n.876+90G>C