Canonical Allele Identifier: CA2405474

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722343A>G , CM000665.2:g.49722343A>G	GRCh38
NC_000003.11:g.49759776A>G , CM000665.1:g.49759776A>G	GRCh37
NC_000003.10:g.49734780A>G	NCBI36
NG_011603.1:g.37787A>G
NG_033731.1:g.6632T>C
NG_033731.2:g.6632T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.656T>C MANE Select	NP_068806.2:p.Ile219Thr
ENST00000308388.7:c.656T>C MANE Select	ENSP00000311130.6:p.Ile219Thr
NM_013334.3:c.656T>C	NP_037466.2:p.Ile219Thr
NM_013334.4:c.656T>C	NP_037466.3:p.Ile219Thr
NM_021971.2:c.656T>C	NP_068806.1:p.Ile219Thr
ENST00000308375.10:c.656T>C	ENSP00000309092.6:p.Ile219Thr
ENST00000308388.6:c.656T>C	ENSP00000311130.6:p.Ile219Thr
ENST00000480687.5:c.656T>C	ENSP00000418565.1:p.Ile219Thr
ENST00000481959.2:n.1229T>C
ENST00000495627.2:c.764T>C	ENSP00000503768.1:p.Ile255Thr
ENST00000677393.1:c.562-196T>C	ENSP00000503880.1:n.562-196T>C
ENST00000678010.1:c.403-196T>C	ENSP00000503176.1:n.403-196T>C
ENST00000678208.1:n.1090T>C
ENST00000678853.1:c.418T>C	ENSP00000504692.1:p.Leu140=