Canonical Allele Identifier: CA10575544
Gene: GPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.50106287G>C , CM000674.2:g.50106287G>C GRCh38
NC_000012.11:g.50500070G>C , CM000674.1:g.50500070G>C GRCh37
NC_000012.10:g.48786337G>C NCBI36
NG_032168.1:g.7469G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005276.4:c.361-1G>C MANE Select NP_005267.2:n.361-1G>C
ENST00000301149.8:c.361-1G>C MANE Select ENSP00000301149.3:n.361-1G>C
NM_001257199.1:c.292-1G>C NP_001244128.1:n.292-1G>C
NM_001257199.2:c.292-1G>C NP_001244128.1:n.292-1G>C
NM_005276.3:c.361-1G>C NP_005267.2:n.361-1G>C
ENST00000301149.7:c.361-1G>C ENSP00000301149.3:n.361-1G>C
ENST00000547190.5:n.404-1G>C
ENST00000547964.5:c.*252-1G>C ENSP00000448244.1:n.*252-1G>C
ENST00000548152.1:n.432-518G>C
ENST00000548814.1:c.292-1G>C ENSP00000446768.1:n.292-1G>C
ENST00000550172.1:n.544-1G>C