Canonical Allele Identifier: CA6072378

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64271745G>C , CM000673.2:g.64271745G>C GRCh38
NC_000011.9:g.64039217G>C , CM000673.1:g.64039217G>C GRCh37
NC_000011.8:g.63795793G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309032.8:c.246C>G (BAD) MANE Select ENSP00000309103.3:p.Asp82Glu
ENST00000309032.7:c.246C>G (BAD) ENSP00000309103.3:p.Asp82Glu
ENST00000394531.3:c.386C>G (BAD) ENSP00000378039.3:p.Thr129Arg
ENST00000394532.7:c.246C>G (BAD) ENSP00000378040.3:p.Asp82Glu
ENST00000492141.1:c.-10C>G (BAD) ENSP00000439202.1:n.-10C>G
ENST00000493798.1:c.-10C>G (BAD) ENSP00000438975.1:n.-10C>G
ENST00000544785.1:c.188-1408C>G (BAD) ENSP00000440575.1:n.188-1408C>G
ENST00000546139.5:c.3+1084G>C (GPR137) ENSP00000445570.1:n.3+1084G>C
NM_004322.3:c.246C>G (BAD) NP_004313.1:p.Asp82Glu
NM_032989.2:c.246C>G (BAD) NP_116784.1:p.Asp82Glu
XM_011545168.1:c.3+1084G>C (GPR137) XP_011543470.1:n.3+1084G>C
XM_011545170.1:c.3+1084G>C (GPR137) XP_011543472.1:n.3+1084G>C
XM_011545171.1:c.3+1084G>C (GPR137) XP_011543473.1:n.3+1084G>C
XM_011545172.1:c.3+1084G>C (GPR137) XP_011543474.1:n.3+1084G>C
XM_011545168.2:c.3+1084G>C (GPR137) XP_011543470.1:n.3+1084G>C
XM_011545170.2:c.3+1084G>C (GPR137) XP_011543472.1:n.3+1084G>C
XM_011545171.2:c.3+1084G>C (GPR137) XP_011543473.1:n.3+1084G>C
XM_011545172.2:c.3+1084G>C (GPR137) XP_011543474.1:n.3+1084G>C
XM_017018016.1:c.3+1084G>C (GPR137) XP_016873505.1:n.3+1084G>C
XM_024448611.1:c.3+1084G>C (GPR137) XP_024304379.1:n.3+1084G>C
NM_032989.3:c.246C>G (BAD) MANE Select NP_116784.1:p.Asp82Glu
NM_001378076.1:c.-16+1084G>C (GPR137) NP_001365005.1:n.-16+1084G>C
NM_001378078.1:c.-16+1084G>C (GPR137) NP_001365007.1:n.-16+1084G>C
NM_001378084.1:c.-16+1084G>C (GPR137) NP_001365013.1:n.-16+1084G>C