Canonical Allele Identifier: CA404250540

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661333G>T , CM000681.2:g.12661333G>T	GRCh38
NC_000019.9:g.12772147G>T , CM000681.1:g.12772147G>T	GRCh37
NC_000019.8:g.12633147G>T	NCBI36
NG_008318.1:g.10445C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.953C>A MANE Select	NP_000519.2:p.Ser318Ter
ENST00000456935.7:c.953C>A MANE Select	ENSP00000395473.2:p.Ser318Ter
NM_000528.3:c.953C>A	NP_000519.2:p.Ser318Ter
NM_001173498.1:c.953C>A	NP_001166969.1:p.Ser318Ter
NM_001173498.2:c.953C>A	NP_001166969.1:p.Ser318Ter
ENST00000221363.8:c.953C>A	ENSP00000221363.4:p.Ser318Ter
ENST00000456935.6:c.953C>A	ENSP00000395473.2:p.Ser318Ter
ENST00000462144.1:n.146C>A
ENST00000466794.5:n.935C>A
XM_005259913.1:c.953C>A	XP_005259970.1:p.Ser318Ter
XM_005259913.2:c.953C>A	XP_005259970.1:p.Ser318Ter
XM_011528017.1:c.-66C>A	XP_011526319.1:n.-66C>A
XM_024451518.1:c.-66C>A	XP_024307286.1:n.-66C>A