Canonical Allele Identifier: CA543149702
Gene: PTPRG HGNC NCBI

Linked Data

dbSNP Id: rs1368320637
gnomAD v2: 3-62064579-G-A
gnomAD v3: 3-62078905-G-A
gnomAD v4: 3-62078905-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.62078905G>A , CM000665.2:g.62078905G>A GRCh38
NC_000003.11:g.62064579G>A , CM000665.1:g.62064579G>A GRCh37
NC_000003.10:g.62039619G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000474889.6:c.615+647G>A MANE Select ENSP00000418112.1:n.615+647G>A
ENST00000295874.14:c.615+647G>A ENSP00000295874.10:n.615+647G>A
ENST00000474889.5:c.615+647G>A ENSP00000418112.1:n.615+647G>A
ENST00000615556.3:c.429+647G>A ENSP00000484346.1:n.429+647G>A
ENST00000618938.2:c.429+647G>A ENSP00000480407.1:n.429+647G>A
NM_002841.3:c.615+647G>A NP_002832.3:n.615+647G>A
XM_005265352.3:c.573+647G>A XP_005265409.1:n.573+647G>A
XM_005265353.3:c.615+647G>A XP_005265410.1:n.615+647G>A
XM_017006961.2:c.735+647G>A XP_016862450.1:n.735+647G>A
XM_017006962.1:c.654+647G>A XP_016862451.1:n.654+647G>A
XM_017006963.2:c.735+647G>A XP_016862452.1:n.735+647G>A
XM_017006964.1:c.267+647G>A XP_016862453.1:n.267+647G>A
NM_002841.4:c.615+647G>A MANE Select NP_002832.3:n.615+647G>A
NM_001375471.1:c.615+647G>A NP_001362400.1:n.615+647G>A