Canonical Allele Identifier: CA2405534

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722633A>G , CM000665.2:g.49722633A>G	GRCh38
NC_000003.11:g.49760066A>G , CM000665.1:g.49760066A>G	GRCh37
NC_000003.10:g.49735070A>G	NCBI36
NG_011603.1:g.38077A>G
NG_033731.1:g.6342T>C
NG_033731.2:g.6342T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.524T>C MANE Select	NP_068806.2:p.Met175Thr
ENST00000308388.7:c.524T>C MANE Select	ENSP00000311130.6:p.Met175Thr
NM_013334.3:c.524T>C	NP_037466.2:p.Met175Thr
NM_013334.4:c.524T>C	NP_037466.3:p.Met175Thr
NM_021971.2:c.524T>C	NP_068806.1:p.Met175Thr
ENST00000308375.10:c.524T>C	ENSP00000309092.6:p.Met175Thr
ENST00000308388.6:c.524T>C	ENSP00000311130.6:p.Met175Thr
ENST00000480687.5:c.524T>C	ENSP00000418565.1:p.Met175Thr
ENST00000481959.2:n.1097T>C
ENST00000495627.2:c.632T>C	ENSP00000503768.1:p.Met211Thr
ENST00000677393.1:c.524T>C	ENSP00000503880.1:p.Met175Thr
ENST00000678010.1:c.402+339T>C	ENSP00000503176.1:n.402+339T>C
ENST00000678208.1:n.958T>C
ENST00000678853.1:c.403-275T>C	ENSP00000504692.1:n.403-275T>C