Canonical Allele Identifier: CA4187513
Community Standard Title: NM_002510.3(GPNMB):c.701-2A>C
Gene: GPNMB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23260454A>C , CM000669.2:g.23260454A>C GRCh38
NC_000007.13:g.23300073A>C , CM000669.1:g.23300073A>C GRCh37
NC_000007.12:g.23266598A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002510.3:c.701-2A>C MANE Select NP_002501.1:n.701-2A>C
ENST00000258733.9:c.701-2A>C MANE Select ENSP00000258733.5:n.701-2A>C
NM_001005340.1:c.701-2A>C NP_001005340.1:n.701-2A>C
NM_001005340.2:c.701-2A>C NP_001005340.1:n.701-2A>C
NM_002510.2:c.701-2A>C NP_002501.1:n.701-2A>C
ENST00000258733.8:c.701-2A>C ENSP00000258733.4:n.701-2A>C
ENST00000381990.6:c.701-2A>C ENSP00000371420.2:n.701-2A>C
ENST00000647578.1:c.701-2A>C ENSP00000497362.1:n.701-2A>C
XM_005249578.1:c.701-2A>C XP_005249635.1:n.701-2A>C
XM_005249578.3:c.701-2A>C XP_005249635.1:n.701-2A>C
XM_017011676.2:c.701-2A>C XP_016867165.1:n.701-2A>C
XM_017011677.2:c.701-2A>C XP_016867166.1:n.701-2A>C
XM_017011678.2:c.701-2A>C XP_016867167.1:n.701-2A>C